ARUP Genetics Test Menu
The test menu below is a complete list of ARUP’s inherited disease testing. A patient history form is requested for many of these genetic tests. Click on the test code or test name to obtain a link to the patient history form for the desired test.
Test # | Test Name | Additional Information | Test Keywords | |
---|---|---|---|---|
2012166 | Dihydropyrimidine Dehydrogenase (DPYD) Genotyping, 3 Mutations | 5-Fluorouracil Sensitivity | DYPD 5-Fluorouracil toxicity 5-FU toxicity 5-FU toxicity 5FU toxicity Adrucil (DPYD) Genotyping, 3 Mutations Xeloda (capecitabine) (DPYD) Genotyping, 3 Mutations DPD Uftoral (tegafur/uracil) (DPYD) Genotyping, 3 Mutations | |
0051266 | Achondroplasia (FGFR3) 2 Mutations | Achondroplasia | AD PCR, Skeletal Dysplasias, Neuroblastoma | |
0051265 | Achondroplasia Mutation, Fetal | Achondroplasia | AD PCR FE, Skeletal Dysplasias | |
0081110 | Carnitine Panel | Acylcarnitine | CARNPAN Fatty Acid Oxidation Disorders FAOD Mitochondrial, acylcarnitine, free and total carnitine | |
0040033 | Acylcarnitine Quantitative Profile, Plasma | Acylcarnitine | ACYLCARN 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency HMG-CoA Lyase Deficiency HMGCL Hydroxymethylglutaryl-CoA lyase, mitochondrial HMG Lyase Deficiency 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency HADH Deficiency HADH Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial SCHAD 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconyl-CoA Hydratase Deficiency AUH Methylglutaconyl-CoA hydratase, mitochondrial MGA1 MGA 1 Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Carnitine Palmitoyltransferase IA Deficiency CPT1A Deficiency Hepatic Carnitine Palmitoyltransferase 1 Deficiency Hepatic CPT1 L-CPT 1 Deficiency CPT1A Carnitine O-palmitoyltransferase 1, liver isoform CPT 1 CPT 1A CPTI CPT I Carnitine Palmitoyltransferase II Deficiency CPT II Deficiency CPT2 Carnitine O-palmitoyltransferase 2, mitochondrial CPTII CPT 2 Carnitine-Acylcarnitine Translocase Deficiency CACT Deficiency SLC25A20 Mitochondrial carnitine/acylcarnitine carrier protein Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Isobutyryl-CoA Dehydrogenase Deficiency ACAD8 Isobutyryl-CoA dehydrogenase, mitochondrial Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency LCHAD Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Multiple Acyl-CoA Dehydrogenase Deficiency Ethylmalonic-Adipicaciduria Glutaric Acidemia II Glutaric Aciduria II MADD ETFA Electron transfer flavoprotein subunit alpha, mitochondrial ETFB Electron transfer flavoprotein subunit beta ETFDH Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial GA2 GA 2 GA II GAII Propionicacidemia Propionic Acidemia PCCA-Related Propionic Acidemia PCCB-Related Propionic Acidemia PCCA Propionyl-CoA carboxylase alpha chain, mitochondrial PCCB Propionyl-CoA carboxylase beta chain, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5 Trifunctional Protein Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial HADHB Trifunctional enzyme subunit beta, mitochondrial Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Very Long Chain Acyl-CoA Dehydrogenase Deficiency | VLCAD Deficiency ACADVL Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | |
0081170 | Acylglycine, Quantitative, Urine | Acylglycine | ACYLGLY MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC1 MCCC2 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial 3 MCC 3MCC Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid Fatty Acid Oxidation Disorders FAOD Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Isobutyryl-CoA Dehydrogenase Deficiency ACAD8 Isobutyryl-CoA dehydrogenase, mitochondrial Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS | |
3000142 | Alpha Fetoprotein (Amniotic Fluid) with Reflex to Acetylcholinesterase and Fetal Hemoglobin | Alpha Fetoprotein, Amniotic Fluid | AF AFP, Prenatal Screening and Diagnosis | |
2011622 | Alpha Globin (HBA1 and HBA2) Deletion/Duplication | Alpha Thalassemia | HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin | |
0051495 | Alpha Thalassemia (HBA1 & HBA2) 7 Deletions | Alpha Thalassemia | ALPHA THAL, Hemoglobinopathies | |
2011708 | Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication | Alpha Thalassemia | AG FGA, | |
0051256 | Alpha-1-Antitrypsin & A1A Genotype with Reflex to Phenotype | Alpha-1-Antitrypsin | A1A GENO, AAT | |
2002398 | Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication | Alport Syndrome | ALPORT FGA Renal disease, chronic kidney disease, hematuria | |
0051786 | Alport Syndrome, X-linked (COL4A5) Sequencing | Alport Syndrome | ALPORT FGS Renal disease, chronic kidney disease, hematuria | |
2013341 | Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk | Alzheimer's Disease | APOE AZ | |
2009389 | Amino Acids Quantitative by LC-MS/MS, Plasma | Amino Acids | AA QNT Amino Adipic Aciduria Aminoadipicaciduria Arginase Deficiency Hyperargininemia ARG1 Arginase-1 ARG 1 Arginemia Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency ASL Deficiency ASL Argininosuccinate lyase ASA lyase deficiency Carbamoylphosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase Deficiency CPS1 Deficiency CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial CPS 1 CPS I Citrullinemia Type I Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Citrullinemia, Classic CTLN1 ASS1 ASS1 Citrullinemia Type II Adult-Onset Type II Citrullinemia CTLN2 SLC25A13 Calcium-binding mitochondrial carrier protein Aralar2 Citrin Deficiency Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondrial SLC6A19 Hartnup Disease Sodium-dependent neutral amino acid transporter B(0) Histidinemia HAL Deficiency Histidase Deficiency HAL Histidine ammonia-lyase Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Homocystinuria, Cystathionine Beta-Synthase Deficiency CBS Cystathionine beta-synthase Hydroxyprolinemia hydroxyproline Hyper-Beta-Alaninemia Hyperalaninemia alanine Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Isolated Persistent Hypermethioninemia Methionine Adenosyltransferase Deficiency MAT1A S-adenosylmethionine synthetase isoform type-1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Maple Syrup Urine Disease BCKD Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Branched-Chain Ketoaciduria Maple Syrup Disease MSUD Maple Syrup Urine Disease Type 1A Maple Syrup Urine Disease Type 1B Maple Syrup Urine Disease Type 2 BCKDHA 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial BCKDHB 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial DBT Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA Ornithine Aminotransferase Deficiency Hyperornithinemia with Gyrate Atrophy of Choroid and Retina OAT Ornithine aminotransferase, mitochondrial Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Phenylalanine Hydroxylase Deficiency PAH Deficiency Hyperphenylalaninemia Phenylketonuria Variant PKU PAH Phenylalanine-4-hydroxylase PKU Tyrosinemia Type I FAH Deficiency Fumarylacetoacetase Deficiency Fumarylacetoacetate Hydrolase Deficiency Hepatorenal Tyrosinemia Hereditary Tyrosinemia Type I FAH Fumarylacetoacetase Tyrosinemia Type II Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Tyrosinemia Oregon Type Tyrosinemia Richner-Hanhart Syndrome TAT Deficiency Tyrosine Aminotransferase Deficiency Tyrosine Transaminase Deficiency TAT Tyrosine aminotransferase Tyrosinemia Type III 4-Hydroxyphenylpyruvate Dioxygenase Deficiency HPD 4-hydroxyphenylpyruvate dioxygenase | |
2009419 | Amino Acids Quantitative by LC-MS/MS, Urine | Amino Acids | UAA QNT Amino Adipic Aciduria Aminoadipicaciduria CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1 SLC6A19 Hartnup Disease Sodium-dependent neutral amino acid transporter B(0) Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Hydroxyprolinemia | |
0080137 | Amino Acids Quantitative, CSF | Amino Acids | CSF AA QNT Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondrial | |
2005077 | Angelman Syndrome and Prader-Willi Syndrome by Methylation | Angelman Syndrome | AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments | |
2005564 | Angelman Syndrome (UBE3A) Sequencing | Angelman Syndrome | UBE3A FGS | |
2012232 | Angelman Syndrome and Prader-Willi Syndrome by Methylation, Fetal | Angelman Syndrome | AS PWS FE Prader-Labhart-Willi Syndrome, AS, PWS | |
2002299 | Chromosome FISH, Metaphase—Angelman syndrome (15q11.2-13) | Angelman Syndrome | AS; D15S10 | |
2005584 | Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication | Aortopathies | FBN1 FGA | |
2005589 | Marfan Syndrome (FBN1) Sequencing | Aortopathies | FBN1 FGS | |
2006540 | Aortopathy Panel, Sequencing and Deletion/Duplication | Aortopathies | AORT PANEL, Thoracic aortic aneurysms, dissections, familial thoracic TAAD AAT, ACTA2 (AAT6), FBN1, MYH11 (AAT4), MYLK (AAT7), SMAD3, TGFBR1 (AAT5), TGFBR2 (AAT3), SLC2A10, FBN2, COL3A1 ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2 | |
2002705 | TGFBR1 & TGFBR2 Sequencing | Aortopathies | LDS FGS, Loeys-Dietz, aortic aneurysm | |
—see Loeys-Dietz Syndrome | Aortopathies | |||
—see Marfan Syndrome and FBN1-Related Disorders | Aortopathies | |||
0055654 | Apolipoprotein B Mutation Detection (G9775A, C9774T) | Apolipoprotein B (APOB) | APO B, Risk Markers - CVD (Non-traditional) | |
2013341 | Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk | Apolipoprotein E (APOE) | APOE AZ | |
2013337 | Apolipoprotein E (APOE) Genotyping, Cardiovascular Risk | Apolipoprotein E (APOE) | APOE CR | |
0051415 | Ashkenazi Jewish Diseases, 16 Genes | Ashkenazi Jewish Panel (16 disorders) | AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15 | |
2013725 | ABCC8-Related Hyperinsulinism, 3 Variants | Additional Technical Information | Ashkenazi Jewish Panel (16 disorders) | |
2013745 | NEB-Related Nemaline Myopathy, 1 Variant | Additional Technical Information | Ashkenazi Jewish Panel (16 disorders) | |
0051433 | Bloom Syndrome (BLM),1 Variant | Ashkenazi Jewish Panel (16 disorders) | BLM, Jewish Genetic | |
0051453 | Canavan Disease (ASPA), 4 Variants | Ashkenazi Jewish Panel (16 disorders) | ASPA, Jewish Genetic | |
0051463 | Dysautonomia, Familial (IKBKAP), 2 Variants | Ashkenazi Jewish Panel (16 disorders) | IKBKAP, Jewish Genetic Disease | |
0051468 | Fanconi Anemia Group C, (FANCC), 2 Variants | Ashkenazi Jewish Panel (16 disorders) | FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA | |
2013740 | Glycogen Storage Disease, Type 1A (G6PC), 9 Variants | Additional Technical Information | Ashkenazi Jewish Panel (16 disorders) | |
2013909 | Joubert Syndrome Type 2 (TMEM216), 1 Variant | Additional Technical Information | Ashkenazi Jewish Panel (16 disorders) | |
2013735 | Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants | Additional Technical Information | Ashkenazi Jewish Panel (16 disorders) | |
2013730 | Maple Syrup Urine Disease, Type 1B (BCKDHB), 3 Variants | Additional Technical Information | Ashkenazi Jewish Panel (16 disorders) | |
0051448 | Mucolipidosis Type IV (MCOLN1), 2 Variants | Ashkenazi Jewish Panel (16 disorders) | MCOLN1, Jewish Genetic, lysosomal | |
0051458 | Niemann-Pick, Type A (SMPD1), 4 Variants | Ashkenazi Jewish Panel (16 disorders) | SMPD1, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del | |
0051428 | Tay-Sachs Disease (HEXA), 7 Variants | Ashkenazi Jewish Panel (16 disorders) | HEXA, Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W | |
2013750 | Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants | Additional Technical Information | Ashkenazi Jewish Panel (16 disorders) | |
0051438 | Gaucher Disease (GBA), 8 Variants | Ashkenazi Jewish Panel (16 disorders) | GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase | |
2014314 | Autism and Intellectual Disability Comprehensive Panel | Autism | Creatine, epilepsy, amino acids, organic acids, mucopolysaccharidoses (MPS), MPS, acylcarnitine, mental retardation, Fragile X, microarray | |
2003414 | Cytogenomic SNP Microarray | Autism | CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, intellectual disability, developmental disability, IDD, ID | |
2006267 | Cytogenomic SNP Microarray Buccal Swab | Autism | CMA BUCCAL, CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, cheek swab, intellectual disability, developmental disability, IDD, ID | |
2014312 | Autism and Intellectual Disability Metabolic Panel | Autism | Creatine, epilepsy, amino acids, organic acids, mucopolysaccharidoses (MPS), MPS, acylcarnitine, mental retardation, SLC6A8, microarray | |
2009353 | Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood | Autism | SNP CHR PB, CMA SNP, array, CGH, aCGH, CNV, mental retardation, intellectual and developmental disability, IDD, ID, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy | |
0051614 | Rett Syndrome (MECP2), Full Gene Analysis | Autism | RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments | |
2002470 | PTEN-Related Disorders Sequencing and Deletion/Duplication | Autism | PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism | |
2004935 | CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication | Autism | CDKL5 FGA, X-linked infantile spasm | |
2005077 | Angelman Syndrome and Prader-Willi Syndrome by Methylation | Autism | AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments | |
2005564 | Angelman Syndrome (UBE3A) Sequencing | Autism | UBE3A FGS | |
3001635 | Beckwith-Wiedemann Syndrome (BWS) and Russell-Silver Syndrome (RSS) by Methylation-Specific MLPA | Beckwith-Wiedemann | ||
0050388 | Beta Globin (HBB) Sequencing, Fetal | Beta Globin | BG SEQ FE | |
2010117 | Beta Globin (HBB) Sequencing and Deletion/Duplication | Beta Globin | BG FGA, Beta thalassemia, beta globin, HBB | |
2010113 | Beta Globin (HBB) Deletion/Duplication | Beta Globin | BG DD, Beta thalassemia, beta globin, HBB | |
0093362 | Biotinidase, Serum (with paired normal control) | Biotinidase | BTD ENZ Biotinidase Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Late-Onset Multiple Carboxylase Deficiency BTD Biotinidase Biotinidase enzyme | |
0051730 | Biotinidase Deficiency (BTD) Sequencing | Biotinidase Deficiency | BTD FGS, Multiple carboxylase | |
0051368 | Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) | Blood Genotyping | RHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic | |
3002002 | RhC/c (RHCE) Antigen Genotyping | Blood Genotyping | RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility | |
3002003 | RhE/e (RHCE) Antigen Genotyping | Blood Genotyping | RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility | |
3002001 | Kell K/k Antigen (KEL) Genotyping | Blood Genotyping | KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano | |
3001053 | Red Blood Cell Antigen Genotyping | Blood Genotyping | colton,diego,dombrock,duffy,kell,kidd,landsteiner-wiener,lutheran,mns,rh,scianna | |
0051433 | Bloom Syndrome (BLM),1 Variant | Bloom Syndrome | BLM, Jewish Genetic | |
2002498 | BRAF codon 600 Mutation Detection by Pyrosequencing | BRAF | Melanoma, Colorectal cancer, Lynch Syndrome, HNPCC, Hereditary Nonpolyposis Colorectal Cancer, Gastrointestinal Adenocarcinoma, Papillary thyroid carcinoma | |
2013921 | BRAF V600E Mutation Detection in Circulating Cell-Free DNA by Digital Droplet PCR | BRAF | ||
2012026 | Hereditary Breast and Ovarian Cancer Panel, Sequencing and Deletion/Duplication | Breast Cancer | BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 | |
2011949 | Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication | Breast Cancer | BRCA FGA, BRACA, HBOC | |
2011954 | Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing | Breast Cancer | BRCA FGS, BRACA, HBOC | |
2002722 | PTEN-Related Disorders Sequencing | Breast Cancer | PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism | |
2002470 | PTEN-Related Disorders Sequencing and Deletion/Duplication | Breast Cancer | PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism | |
2009313 | Li-Fraumeni (TP53) Sequencing and Deletion/Duplication | Breast Cancer | TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
2009302 | Li-Fraumeni (TP53) Sequencing | Breast Cancer | TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
2008398 | Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication | Breast Cancer | STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation | |
2008394 | Peutz-Jeghers Syndrome (STK11) Sequencing | Breast Cancer | STK11, STK11 FGS, hamartomatous polyps, mucocutaneous hypergigmentation | |
3000531 | Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL | CADASIL | opathy, NOTCH3, notch3 | |
0051453 | Canavan Disease (ASPA), 4 Variants | Canavan Disease | ASPA, Jewish Genetic | |
2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Cancer, Hereditary | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
3001132 | Capillary Malformation-Arteriovenous Malformation (EPHB4 and RASA1) Sequencing and (RASA1) Deletion/Duplication | Capillary Malformation-Arteriovenous Malformation | ||
3001129 | Capillary Malformation-Arteriovenous Malformation 2 (EPHB4) Sequencing | Capillary Malformation-Arteriovenous Malformation | ||
2007852 | RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication | Capillary Malformation-Arteriovenous Malformation | RASA1 FGA, RASA1, CM-AVM, Parkes Weber | |
2002730 | RASA1-Related Disorders (RASA1) Sequencing | Capillary Malformation-Arteriovenous Malformation | RASA1 FGS, Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain, arteriovenous malformations, AVM, CM-AVM, Parkes-Weber, PKWS | |
2010183 | Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication | Cardiomyopathy | CARDIACPAN, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM), Arrhythmogenic right vernticular cardiomyopathy (ARVC), Left ventricular noncompaction (LVNC), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada syndrome (BrS), Long QT syndrome (LQTS), Romano-Ward, Short QT syndrome (SQTS), ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL, arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction (LVNC), long QT syndrome (LQTS), Romano-Ward, short QT syndrome (SQTS) | |
0081110 | Carnitine Panel | Carnitine | CARNPAN Fatty Acid Oxidation Disorders FAOD Mitochondrial, acylcarnitine, free and total carnitine | |
0080068 | Carnitine, Free and Total, Plasma | Carnitine | OCTN2 CARN F&T Carnitine Palmitoyltransferase IA Deficiency CPT1A Deficiency Hepatic Carnitine Palmitoyltransferase 1 Deficiency Hepatic CPT1 L-CPT 1 Deficiency CPT1A Carnitine O-palmitoyltransferase 1, liver isoform CPT 1 CPT 1A CPTI CPT I Carnitine Palmitoyltransferase II Deficiency CPT II Deficiency CPT2 Carnitine O-palmitoyltransferase 2, mitochondrial CPTII CPT 2 Carnitine-Acylcarnitine Translocase Deficiency CACT Deficiency SLC25A20 Mitochondrial carnitine/acylcarnitine carrier protein Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5 | |
0081308 | Carnitine, Free and Total, Urine | Carnitine | OCTN2 CARN URINE Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5 | |
0080065 | Carnitine, Free, Plasma | Carnitine | CARN | |
0080067 | Carnitine, Total, Plasma | Carnitine | CARN TOTAL | |
2004203 | Carnitine Deficiency, Primary (SLC22A5) Sequencing and Deletion/Duplication | Carnitine Deficiency | PCD FGA, OCTN2, carnitine uptake | |
0051682 | Carnitine Deficiency, Primary (SLC22A5) Sequencing | Carnitine Deficiency | PCD FGS, OCTN2, carnitine uptake | |
0051415 | Ashkenazi Jewish Diseases, 16 Genes | Carrier Screening Panels | AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15 | |
3000258 | Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation | Carrier Screening Panels | CF FX SMA | |
2014680 | Expanded Carrier Screen by Next Generation Sequencing | Carrier Screening Panels | ECS SEQ | |
2014677 | Expanded Carrier Screen by Next Generation Sequencing with Fragile X | Carrier Screening Panels | ECS SEQ FX | |
2004931 | CDKL5-Related Disorders (CDKL5) Sequencing | Additional Technical Information | CDKL5-Related Disorders | CDKL5 FGS, X-linked infantile spasm |
2004935 | CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication | CDKL5-Related Disorders | CDKL5 FGA, X-linked infantile spasm | |
2005018 | Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping |
Do not use in the initial evaluation for celiac disease. Useful in ruling out celiac disease (CD) (high negative predictive value) in selective clinical situations such as: • Equivocal small-bowel histologic finding (Marsh I-II) in seronegative individuals • Evaluation of individuals on a gluten-free diet (GFD) in whom no testing for CD was done before GFD |
Celiac Disease | HLA CELIAC |
2002965 | Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication | Central Nervous System Cancer | VHL FGA, Brain Tumors, Pheochromocytoma | |
2002970 | Von Hippel-Lindau (VHL) Sequencing | Central Nervous System Cancer | VHL FGS, Congenital polycythemia | |
2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Central Nervous System Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
2009313 | Li-Fraumeni (TP53) Sequencing and Deletion/Duplication | Central Nervous System Cancer | TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
2009302 | Li-Fraumeni (TP53) Sequencing | Central Nervous System Cancer | TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
2012160 | Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication | Charcot-Marie-Tooth Disease | CMT DD, AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARS | |
2012155 | Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/ Duplication with Reflex to Sequencing Panel | Charcot-Marie-Tooth Disease | CMT REFLEX, AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARS | |
2012151 | Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing | Charcot-Marie-Tooth Disease | CMT SEQ, AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARS | |
2012609 | CHARGE Syndrome, CHD7 Sequencing | CHARGE Syndrome | ||
2012717 | CHARGE Syndrome (CHD7) Sequencing, Fetal | CHARGE Syndrome | ||
2002065 | Chimerism, Recipient Pre-Transplant | Chimerism | STR-PRE | |
2002067 | Chimerism, Donor | Chimerism | STR-DONOR | |
2002064 | Chimerism, Post-Transplant, Sorted Cells | Chimerism | STR-POSTSC | |
2002066 | Chimerism, Post-Transplant | Chimerism | STR-POST | |
3000544 | Chronic Granulomatous Disease Panel (CYBB Sequencing and NCF1 Exon 2 GT Deletion) | Chronic Granulomatous Disease | CGD PAN, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II | |
3000541 | Chronic Granulomatous Disease, X-Linked (CYBB) Sequencing | Chronic Granulomatous Disease | CYBB FGS , Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II | |
2006366 | Chronic Granulomatous Disease (NCF1) Exon 2 GT Deletion | Chronic Granulomatous Disease | NCF1, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II | |
2006261 | Citrin Deficiency (SLC25A13) Sequencing | Citrin Deficiency | CITRIN FGS Citrin Deficiency Citrullinemia Type II Failure to Thrive and Dyslipidemia Caused by Citrin Deficiency Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency | |
2007069 | Citrullinemia, Type I (ASS1) Sequencing | Citrullinemia, Type I | ||
2011157 | Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication | Cobalamin/Propionate/Homocysteine Metabolism Related Disorders | VB12 PANEL, "ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2 Methylmalonic aciduria and homocystinuria, cblJ type Combined malonic and methylmalonic aciduria Megaloblastic anemia-1, Norwegian type Homocystinuria due to cystathionine beta-synthase deficiency Methylmalonic aciduria due to transcobalamin receptor defect Megaloblastic anemia-1, Finnish type Intrinsic factor deficiency Methylmalonic acidemia and homocysteinemia, cblX type Methylmalonic aciduria and homocystinuria, cblF type Methionine adenosyltransferase deficiency Methylmalonyl-CoA epimerase deficiency Methylmalonic aciduria, cblA type Methylmalonic aciduria, cblB type Methylmalonic aciduria and homocystinuria, cblC type Methylmalonic aciduria and homocystinuria, cblD type Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity Homocystinuria-megaloblastic anemia, cblG type Homocystinuria-megaloblastic anemia, cbl E type Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Propionic acidemia Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) Transcobalamin I deficiency Transcobalamin II deficiency | |
2002289 | Chromosome Analysis, Peripheral Blood | Constitutional Chromosome Studies | CHR PB, karyotype, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, mental retardation, developmental delay, 45X, 45,X, XXY, XYY, anomalies, birth defects, infertility | |
2002287 | Chromosome Analysis, Rule Out Mosaicism | Constitutional Chromosome Studies | CHR R/OM, Turner, Turners, Turner's, 45X, 45,X, mosaic, Down, Downs, Down's, trisomy 21, T21, karyotype | |
2005763 | Chromosome Analysis, Peripheral Blood, with Reflex to Genomic Microarray | Constitutional Chromosome Studies | PB REFLEX, SNP CHR PB, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, mental retardation, developmental delay, 45X, 45,X, XXY, XYY, congenital anomalies, MCA, birth defects, autism, PDD, pervasive, ASD, intellectual disability, developmental disability, IDD, ID | |
2009353 | Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood | Constitutional Chromosome Studies | SNP CHR PB, CMA SNP, array, CGH, aCGH, CNV, mental retardation, intellectual and developmental disability, IDD, ID, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy | |
2002293 | Chromosome Analysis, Amniotic Fluid | Constitutional Chromosome Studies | CHR AF, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes | |
2008367 | Chromosome Analysis, Amniotic Fluid, with Reflex to Genomic Microarray | Constitutional Chromosome Studies | AF REFLEX, 45,X, 45X, AF, ambiguous genitalia, amnio, cardiac defect, cystic hygroma, Down syndrome, Down’s syndrome, Downs syndrome, Edward’s, Edwards, heart defect, Increased NT, inversion, karyotype, karyotypes, Kleinfelter, Klienfelters, Klinefelter’s, MCA, monosomy, multiple congenital abnormalities, multiple congenital anomalies, NT, nuchal translucency, Pateau, prenatal, sex chromosome, T13, T18, T21, translocation, trisomy 13, trisomy 18, trisomy 21, Turner syndrome, Turner’s syndrome, Turners syndrome, XO, XXY, XYY Array CGH (Microarray Genomic, Fetal), Comparative Genomic Hybridization (Microarray Genomic, Fetal), Microarray (Microarray Genomic, Fetal), Oligo Array (Microarray Genomic, Fetal) | |
2011130 | Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray | Constitutional Chromosome Studies | AF F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes | |
2002291 | Chromosome Analysis, Chorionic Villus Sampling (CVS) | Constitutional Chromosome Studies | CHR CVS, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, villi, placenta | |
2011131 | Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray | Constitutional Chromosome Studies | CVS F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes | |
2002288 | Chromosome Analysis, Products of Conception | Constitutional Chromosome Studies | CHR POC, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, fetus, fetal, villi, placenta, pregnancy loss | |
2005762 | Chromosome Analysis, Products of Conception, with Reflex to Genomic Microarray | Constitutional Chromosome Studies | POC REFLEX, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, fetus, fetal, villi, placenta, pregnancy loss | |
2002286 | Chromosome Analysis, Skin Biopsy | Constitutional Chromosome Studies | CHR SKIN, tissue, karyotype, mosaic, mosaicism | |
0097688 | Chromosome Analysis—Breakage, Fanconi Anemia | Constitutional Chromosome Studies | BREAKAGE, Fanconi anemia, Fanconi’s, Fanconis, diagnostic | |
2008610 | Creatine Transporter Deficiency (SLC6A8) Sequencing and Deletion/Duplication | Creatine | SLC6A8 FGA, SLC6A8-Related Creatine Transporter Deficiency, SLC6A8 Deficiency | |
2008615 | Creatine Transporter Deficiency (SLC6A8) Sequencing | Additional Technical Information | Creatine | SLC6A8 FGS, SLC6A8-Related Creatine Transporter Deficiency, SLC6A8 Deficiency |
2011140 | Guanidinoacetate Methyltransferase (GAMT) Deficiency Sequencing | Creatine | GAMT FGS, GAA, creatine, creatine deficiency, guanidinoacetate N-methyltransferase, GAMT deficiency | |
2011144 | Arginine:Glycine Amidinotransferase (GATM) Deficiency Sequencing | Creatine | AGAT FGS, AGAT, l-arginine:glycine, creatine, creatine deficiency , AGAT deficiency | |
2002328 | Creatine Disorders Panel, Plasma or Serum | Additional Technical Information | Creatine | GAMT, AGAT, SLC6A8, guanidinoacetate, GAA CRTN DIS P Guanidinoacetate Methyltransferase Deficiency GAMT Deficiency GAMT Guanidinoacetate N-methyltransferase GAA L-Arginine:Glycine Amidinotransferase Deficiency GATM Deficiency GATM Glycine amidinotransferase, mitochondrial AGAT deficiency SLC6A8-Related Creatine Transporter Deficiency Mental Retardation, X-Linked, with Creatine Transport Deficiency SLC6A8 Deficiency SLC6A8 Sodium- and chloride-dependent creatine transporter 1 |
2002333 | Creatine Disorders Panel, Urine | Additional Technical Information | Creatine | GAMT, AGAT, SLC6A8, guanidinoacetate, GAA CRTN DIS U Guanidinoacetate Methyltransferase Deficiency GAMT Deficiency GAMT Guanidinoacetate N-methyltransferase GAA L-Arginine:Glycine Amidinotransferase Deficiency GATM Deficiency GATM Glycine amidinotransferase, mitochondrial AGAT deficiency SLC6A8-Related Creatine Transporter Deficiency Mental Retardation, X-Linked, with Creatine Transport Deficiency SLC6A8 Deficiency SLC6A8 Sodium- and chloride-dependent creatine transporter 1 |
0051110 | Cystic Fibrosis (CFTR) Sequencing | Cystic Fibrosis | CF-CFTR, Diagnostic, CF | |
0051640 | Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication | Cystic Fibrosis | CFTR FGA, Diagnostic, CF | |
2013661 | Cystic Fibrosis (CFTR), 165 Pathogenic Variants | Cystic Fibrosis | CF VAR | |
2013662 | Cystic Fibrosis (CFTR), 165 Pathogenic Variants, Fetal | Cystic Fibrosis | CF VAR FE | |
2013663 | Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing | Cystic Fibrosis | CF VAR SEQ | |
2013664 | Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing and Reflex to Deletion/Duplication | Cystic Fibrosis | CFVAR COMP | |
0081105 | Cystinuria Panel (Arginine, Cystine, Lysine, Ornithine), Urine | Cystine | CYS PAN CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1 | |
0081106 | Cystine Quantitative, Urine | Cystine | QNT CYS U CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1 | |
3001524 | Cytochrome P450 Genotyping Panel (includes variants covered in the 2C19GENO, 2C8/2C9, 2D6GENO, 3A4/3A5) | Cytochrome P450 | CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5 | |
3001508 | CYP2C19 | Cytochrome P450 | clopidogrel (Plavix), antidepressants, voriconazole, protein pump inhibitors (PPIs), omeprazole | |
3001501 | CYP2C8 and CYP2C9 | Cytochrome P450 | warfarin, Coumadin, phenytoin, sulfonylureas, glimepiride, gliclazide, glibenclamide, tolbutamide | |
3001513 | CYP2D6 | Cytochrome P450 | antidepressants, antipscyhotics, atomoxetine, tramadol, codeine, oxycodone, tamoxifen, zuclopenthixol, tropisetron, felcainide, metoprolol, propafenone | |
3001518 | CYP3A4 and CYP3A5 | Cytochrome P450 | tacrolimus | |
0080351 | Ehlers-Danlos Syndrome Type VI Screen, Urine | Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) | EDS6 Ehlers-Danlos Syndrome, Kyphoscoliotic Form EDS Kyphoscoliotic Form EDS Type VI EDS VI Ehlers-Danlos Syndrome Type VI Lysyl-Hydroxylase Deficiency Ehlers-Danlos Syndrome Type VIA Nevo Syndrome PLOD1 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 EDSVI EDS6 EDS 6 | |
2005559 | Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication | Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) | EDS-VI FGA | |
2005360 | Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication | Endocrine Cancer | MEN1 FGA, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN) | |
2005359 | Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing | Endocrine Cancer | MEN1 FGS, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN) | |
0051390 | Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing | Endocrine Cancer | MEN2 SEQ, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene | |
2002965 | Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication | Endocrine Cancer | VHL FGA, Brain Tumors, Pheochromocytoma | |
2002970 | Von Hippel-Lindau (VHL) Sequencing | Endocrine Cancer | VHL FGS, Congenital polycythemia | |
2007167 | Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel | Endocrine Cancer | ||
2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Endocrine Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
2006948 | SDHB with Interpretation by Immunohistochemistry | Endocrine Cancer | ||
2011461 | Hereditary Paraganglioma-Pheochromocytoma (SDHA) Sequencing | Additional Technical Information | Endocrine Cancer | SDHA FGS |
2007108 | Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication | Additional Technical Information | Endocrine Cancer | |
2007117 | Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication | Additional Technical Information | Endocrine Cancer | |
2002722 | PTEN-Related Disorders Sequencing | Endocrine Cancer | PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism | |
2007122 | Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication | Additional Technical Information | Endocrine Cancer | |
2002470 | PTEN-Related Disorders Sequencing and Deletion/Duplication | Endocrine Cancer | PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism | |
2009313 | Li-Fraumeni (TP53) Sequencing and Deletion/Duplication | Endocrine Cancer | TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
2009302 | Li-Fraumeni (TP53) Sequencing | Endocrine Cancer | TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
2007545 | Childhood-Onset Epilepsy Panel, Sequencing and Deletion/Duplication | Additional Technical Information | Epilepsy | CHILD EPIL, Early-onset epileptic encephalopathy, SCN1A, Sodium channel protein type 1 alpha, PCDH19, Protocadherin-19, SLC2A1, Solute carrier family 2, facilitated glucose transporter member 1, POLG, DNA polymerase subunit gamma-1, SCN2A, Sodium channel protein type 2 alpha, Generalized epilepsy with febrile seizures plus, GEFS+, SCN1A, Sodium channel protein type 1 alpha, SCN1B, Sodium channel subunit beta-1, GABRG2, Gamma-aminobutyric acid receptor subunit gamma-2, SCN2A, Sodium channel protein type 2 alpha, Juvenile Myoclonic Epilepsy, JME, EFHC1, EF-hand domain-containing protein 1, CACNB4, Voltage-dependent L-type calcium channel subunit beta-4, GABRA1, Gamma-aminobutyric acid receptor subunit alpha-1, Progressive Myoclonic Epilepsy, EPM2A, Laforin, NHLRC1, EPM2B, NHL repeat-containing protein 1, malin, CSTB, Cystatin-B, PRICKLE1, Prickle-like protein 1, Autosomal Dominant Focal Epilepsies, CHRNA4, Neuronal acetylcholine receptor alpha-4, CHRNB2, Neuronal acetylcholine receptor beta-2, CHRNA2, Neuronal acetylcholine receptor alpha-2, LGI1, Leucine-rich glioma-inactivated protein 1, atypical Rett syndromes, MECP2, Methyl CpG binding protein 2, CDKL5, Cyclin-dependent kinase-like 5, FOXG1, Forkhead box protein G1, Angelman, Angelman-like, Pitt-Hopkins, UBE3A, Ubiquitin protein ligase E3A, SLC9A6, Sodium/hydrogen exchanger 6, TCF4, Transcription factor 4, NRXN1, Neurexin-1, CNTNAP2, Contactin-associated protein-like 2, Mowat-Wilson, ZEB2, Zinc finger E-box-binding, homeobox 2, Creatine deficiency, GAMT, Guanidinoacetate N-methyltransferase, GATM, Glycine amidinotransferase, mitochondrial, Neuronal Ceroid Lipofuscinoses, NCL, PPT1, CLN1, Palmitoyl-protein thioesterase 1, TPP1, CLN2,Tripeptidyl-peptidase 1, CLN3, Battenin, CLN5, Ceroid-lipofuscinosis neuronal protein 5, CLN6, Ceroid-lipofuscinosis neuronal protein 6, MFSD8, CLN7, Major facilitator superfamily domain-containing protein 8, CLN8, Ceroid-lipofuscinosis neuronal protein 8, CTSD, CLN10, Cathepsin D, Adenosuccinate lyase deficiency, ADSL, Adenylosuccinate lyase, SYN1, Synapsin-1, Microcephaly with early-onset intractable seizures and developmental delay, MCSZ, PNK, Bifunctional polynucleotide, phosphatase/kinase, seizures, GeneDx |
2007535 | Infantile-Onset Epilepsy Panel, Sequencing and Deletion/Duplication | Additional Technical Information | Epilepsy | INFANT EPIL; SCN1A; PCDH19; SLC2A1; POLG; SCN2A; SCN1A; SCN1B; GABRG2; EFHC1; CACNB4; GABRA1; EPM2A; NHLRC1; EPM2B; CSTB; PRICKLE1; CHRNA4; CHRNB2; CHRNA2; LGI1; MECP2; CDKL5; FOXG1; UBE3A; SLC9A6; TCF4; NRXN1; CNTNAP2; ZEB2; GAMT; GATM; PPT1; CLN1; TPP1; CLN2; CLN3; CLN5; CLN6; MFSD8; CLN7; CLN8; CTSD; CLN10; ADSL; SYN1; PNKP; benign familial neonatal seizures; generalized epilepsy with febrile seizures; juvenile myoclonic epilepsy; progressive myoclonic epilepsy; autosomal dominant focal epilepsies; Rett/atypical Rett syndromes; Angelman/Angelman-like/Pitt-Hopkins syndromes; Mowat-Wilson syndrome; creatine deficiency syndromes; neuronal ceroid lipofuscinoses; adenosuccinate lyase deficiency; epilepsy with variable learning and behavioral disorders; microcephaly with early onset intractable seizures and developmental delay", GeneDx |
2013352 | Pyridoxine-Dependent Epilepsy Panel, Serum or Plasma | Epilepsy | ||
2013355 | Pyridoxine-Dependent Epilepsy Panel, Urine | Epilepsy | ||
2006336 | Exome Sequencing, Proband | Exome | EXOSEQ PRO | |
2006332 | Exome Sequencing, Trio | Exome | EXOME SEQ | |
3001457 | Exome Reanalysis (Originally Test at ARUP - No Specimen Required) | Exome | ||
2003204 | Alpha-Galactosidase, Serum | Fabry Disease | ||
0030192 | APC Resistance Profile with Reflex to Factor V Leiden | Factor V Leiden | APC R, Venous thrombosis, Thromboembolism, Thrombophilia, clotting | |
0097720 | Factor V Leiden (F5) R506Q Mutation | Factor V Leiden | FACV, Venous thrombosis, Thromboembolism, Thrombophilia, clotting | |
2001549 | Factor V, R2 Mutation | Factor V Leiden | F5 R2, Venous thrombosis, Thromboembolism, Thrombophilia, clotting, A4070G | |
2003220 | Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians) | Factor XIII (F13A1) V34L Variant | FAC 13 MUT, Venous thrombosis, Thromboembolism, Thrombophilia, clotting | |
2004915 | Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations | Familial Adenomatous Polyposis | FAP Panel, Familial Adenomatious Polyposis familial cancer, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer | |
2004863 | Familial Adenomatous Polyposis (APC) Sequencing | Familial Adenomatous Polyposis | APC FGS, Colorectal Cancer, colon cancer, CRC, polyps, Familial Adenomatious Polyposis FAP, familial cancer | |
2006191 | MUTYH-Associated Polyposis (MUTYH) Sequencing | Familial Adenomatous Polyposis | MUTYH, FGS, MYH | |
0051463 | Dysautonomia, Familial (IKBKAP), 2 Variants | Familial Dysautonomia | IKBKAP, Jewish Genetic Disease | |
2002658 | Familial Mediterranean Fever (MEFV) Sequencing | Familial Mediterranean Fever (MEFV) | FMF FGS, DNA | |
2001961 | Familial Mutation, Targeted Sequencing |
The following genes are available: |
Familial Mutation Testing | SEQ FSM |
2001980 | Familial Mutation, Targeted Sequencing, Fetal | Familial Mutation Testing | SEQ FSM FE, Known mutation, family study, mutation specific testing, carrier detection, target analysis, familial mutation, family-specific mutation, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells | |
2014035 | Familial Transthyretin Amyloidosis (TTR) | Additional Technical Information GeneReviews |
Familial Transthyretin Amyloidosis (TTR) | |
0051468 | Fanconi Anemia Group C, (FANCC), 2 Variants | Fanconi Anemia Group C | FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA | |
2013518 | Fatty Acids Profile, Essential Serum or Plasma | Fatty Acids | FA PRO SP | |
0040208 | Aneuploidy Panel by FISH (13, 18, 21, X, & Y—newborn whole blood) | FISH (Constitutional)—Aneuploidy Panels | FISHANEU, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, newborn | |
0040203 | Chorionic Villus, FISH (13, 18, 21, X, & Y—CVS) | FISH (Constitutional)—Aneuploidy Panels | FISHCVS, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, prenatal, CVS | |
2011130 | Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray | FISH (Constitutional)—Aneuploidy Panels | AF F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes | |
2002297 | Chromosome FISH, Prenatal (13, 18, 21, X, & Y—Amniotic Fluid) | FISH (Constitutional)—Aneuploidy Panels | CHR FISHP, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, prenatal, amnio, amniotic fluid, Insight, PN FISH | |
2011131 | Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray | FISH (Constitutional)—Aneuploidy Panels | CVS F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes | |
2011130 | Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray | FISH (Constitutional)—Aneuploidy Panels with Reflex Testing | AF F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes | |
2011131 | Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray | FISH (Constitutional)—Aneuploidy Panels with Reflex Testing | CVS F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes | |
2002299 | Chromosome FISH, Metaphase—15q11.2-13 duplication (15q11.2-13) | FISH (Constitutional)—Individual Metaphase Probes | D15S11, D15S10 | |
2002299 | Chromosome FISH, Metaphase—Cri-du-chat (5p-) syndrome (5p15.2) | FISH (Constitutional)—Individual Metaphase Probes | D5S23; D5S721 | |
2002299 | Chromosome FISH, Metaphase—DiGeorge/Velocardiofacial (VCF) syndrome (22q11.2) | FISH (Constitutional)—Individual Metaphase Probes | Tuple-1; Tuple; Hira; VCFS | |
2002299 | Chromosome FISH, Metaphase—Kallmann syndrome (Xp22.3) | FISH (Constitutional)—Individual Metaphase Probes | KAL; KAL1 | |
2002299 | Chromosome FISH, Metaphase—Miller-Dieker (Lisencephaly) syndrome (17p13.3) | FISH (Constitutional)—Individual Metaphase Probes | LIS; LIS1 | |
2002299 | Chromosome FISH, Metaphase—Phelan McDermid (22qter) syndrome (22q13.3) | FISH (Constitutional)—Individual Metaphase Probes | Shank3; shank; 22qtel | |
2002299 | Chromosome FISH, Metaphase—Prader-Willi syndrome (15q11.2-13) | FISH (Constitutional)—Individual Metaphase Probes | PWS; D15S10 | |
2002299 | Chromosome FISH, Metaphase—SHOX (Xp22.3) | FISH (Constitutional)—Individual Metaphase Probes | ||
2002299 | Chromosome FISH, Metaphase—Smith-Magenis syndrome (17p11.2) | FISH (Constitutional)—Individual Metaphase Probes | SHMT1; TOP3; FL11; LLGL1 | |
2002299 | Chromosome FISH, Metaphase—SRY/male detection (Yp11.3) | FISH (Constitutional)—Individual Metaphase Probes | ||
2002299 | Chromosome FISH, Metaphase—Steroid sulfatase deficiency (STS) (Xp22.3) | FISH (Constitutional)—Individual Metaphase Probes | icthyosis | |
2002299 | Chromosome FISH, Metaphase—Williams (elastin) syndrome (7q11.23) | FISH (Constitutional)—Individual Metaphase Probes | ELN; LIMK1; D7S613 | |
2002299 | Chromosome FISH, Metaphase—Wolf-Hirschhorn (4p-) syndrome (4p16.3) | FISH (Constitutional)—Individual Metaphase Probes | WHSC1 | |
2002299 | Chromosome FISH, Metaphase—Yq12 | FISH (Constitutional)—Individual Metaphase Probes | ||
2002299 | Chromosome FISH, Metaphase—Angelman syndrome (15q11.2-13) | FISH (Constitutional)—Individual Metaphase Probes | AS; D15S10 | |
2002298 | Chromosome FISH, Interphase—X centromere | FISH (Constitutional)—Individual Interphase Probes | ||
2002298 | Chromosome FISH, Interphase—Y centromere | FISH (Constitutional)—Individual Interphase Probes | ||
2009033 | Fragile X (FMR1) with Reflex to Methylation Analysis | Fragile X | FRAG X PCR, Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia | |
2009034 | Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal | Fragile X | FX PCR FE, known mutation, family study, mutation specific testing, target analysis, familial mutation, family-specific mutation, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells, X-linked | |
2007163 | Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing | Additional Technical Information | G6PD Deficiency | G6PD AFRIC, Hemolytic Anemias |
0051684 | Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A) | G6PD Deficiency | G6PD AFRIC, Hemolytic Anemias | |
3001790 | Galactose-1-Phosphate Enzyme Activity | Galactosemia | G1PUT Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase | |
0051175 | Galactosemia, (GALT) Enzyme Activity & 9 Mutations | Galactosemia | GALTPAN Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase | |
0051176 | Galactosemia, (GALT) 9 Mutations | Galactosemia | GALTDNA, Galactosemia | |
0081296 | Galactose-1-Phosphate in Red Blood Cells | Galactosemia | GAL1PRBC Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase | |
2006697 | GALT (Galactosemia) Sequencing | Additional Technical Information | Galactosemia | GALT FGA, Galactosemia |
0051270 | Galactosemia, (GALT ) 9 Mutations, Fetal | Galactosemia | GALTDNA FE, Galactosemia | |
0051750 | BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation | Gastrointestinal Cancer | BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers | |
2002499 | MLH1 Promoter Methylation, Paraffin | Additional Technical Information | Gastrointestinal Cancer | MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers |
0049302 | Mismatch Repair by Immunohistochemistry | Additional Technical Information | Gastrointestinal Cancer | MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch |
0051740 | Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR | Additional Technical Information | Gastrointestinal Cancer | MSI PCR, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair |
2005270 | Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation | Additional Technical Information | Gastrointestinal Cancer | MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch |
2004915 | Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations | Gastrointestinal Cancer | FAP Panel, Familial Adenomatious Polyposis familial cancer, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer | |
2004863 | Familial Adenomatous Polyposis (APC) Sequencing | Gastrointestinal Cancer | APC FGS, Colorectal Cancer, colon cancer, CRC, polyps, Familial Adenomatious Polyposis FAP, familial cancer | |
2006191 | MUTYH-Associated Polyposis (MUTYH) Sequencing | Gastrointestinal Cancer | MUTYH, FGS, MYH | |
2004992 | Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication | Gastrointestinal Cancer | BMPR1A FGA, JPS, SMAD4 | |
2004988 | Juvenile Polyposis (BMPR1A) Sequencing | Gastrointestinal Cancer | BMPR1A FGS, JPS, SMAD4, Juvenile Polyposis | |
2013449 | Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | GICAN PAN, APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, colon, colorectal, cancer, gastrointestinal, stomach, GI cancer, polyp, FAP, polyposis, diffuse gastric, Lynch, HNPCC, MAP, Juvenile Polyposis, Peutz-Jeghers, Li-Fraumeni APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, diffuse gastric cancer, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP) | |
2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
0051650 | HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication | Gastrointestinal Cancer | MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch | |
0051654 | HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication | Additional Technical Information | Gastrointestinal Cancer | MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
0051656 | HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication | Additional Technical Information | Gastrointestinal Cancer | MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
0051737 | HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication | Additional Technical Information | Gastrointestinal Cancer | PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
2009313 | Li-Fraumeni (TP53) Sequencing and Deletion/Duplication | Gastrointestinal Cancer | TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
2001971 | Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication | Gastrointestinal Cancer | SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis | |
2001728 | HNPCC/Lynch Syndrome Deletion/Duplication | Additional Technical Information | Gastrointestinal Cancer | HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome |
2009302 | Li-Fraumeni (TP53) Sequencing | Gastrointestinal Cancer | TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
0051510 | Juvenile Polyposis (SMAD4) Sequencing | Gastrointestinal Cancer | SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre, Juvenile Polyposis | |
2008398 | Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication | Gastrointestinal Cancer | STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation | |
2008394 | Peutz-Jeghers Syndrome (STK11) Sequencing | Gastrointestinal Cancer | STK11, STK11 FGS, hamartomatous polyps, mucocutaneous hypergigmentation | |
3001648 | Gaucher Disease (GBA) Sequencing | Gaucher Disease | Glucocerebrosidase Deficiency, Glucosylceramidase Deficiency | |
0051438 | Gaucher Disease (GBA), 8 Variants | Gaucher Disease | GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase | |
2014459 | Gaucher Disease (GBA), Enzyme Activity in Leukocytes | Gaucher Disease | Gaucher GBA glucocerebrosidase glucosidase | |
2003414 | Cytogenomic SNP Microarray | Genomic Microarray | CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, intellectual disability, developmental disability, IDD, ID | |
2006267 | Cytogenomic SNP Microarray Buccal Swab | Genomic Microarray | CMA BUCCAL, CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, cheek swab, intellectual disability, developmental disability, IDD, ID | |
2009353 | Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood | Genomic Microarray | SNP CHR PB, CMA SNP, array, CGH, aCGH, CNV, mental retardation, intellectual and developmental disability, IDD, ID, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy | |
2006325 | Cytogenomic SNP Microarray—Oncology | Additional Technical Information | Genomic Microarray | CMA ONC ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia |
2002366 | Cytogenomic SNP Microarray—Fetal | Genomic Microarray | ARRAY FE, array, CGH, aCGH, CNV, ultrasound anomalies, birth defects, amnio, amniotic fluid, CVS, villi, cultured cells | |
2005633 | Genomic SNP Microarray, Products of Conception | Genomic Microarray | ARRAY POC, conception, amnio, amniotic fluid, CVS, villi, cultured cells | |
2010795 | Cytogenomic Molecular Inversion Probe Array, FFPE Tissue - Products of Conception | Genomic Microarray | ARRAY POC, conception, amnio, amniotic fluid, CVS, villi, cultured cells, parafin-embedded, formalin-fixed, tissue block, | |
3001313 | MET Gene Amplification by FISH | Genomic Microarray (FISH) | ||
2011465 | GLI3-Related Disorders (GLI3) Sequencing and Deletion/Duplication | GLI3-Related Disorders | GLI3 FGA, Greig cephalopolysyndactyly, Pallister-Hall, Pallister Hall, polydactyly | |
2011470 | GLI3-related disorders (GLI3) Sequencing | GLI3-Related Disorders | GLI3 FGS, Greig cephalopolysyndactyly, Pallister-Hall, Pallister Hall, polydactyly | |
2001510 | Glutarylcarnitine, Quantitative, Urine | Glutarylcarnitine | C5DC URINE GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I | |
2001992 | Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations | Hearing Loss | HL PANEL, m.1555A>G, m.7445A>G, Connexin 26, Connexin 30 | |
0051374 | Connexin 26 (GJB2) Sequencing | Hearing Loss | CX26SEQ, Hearing Loss | |
2001956 | Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions | Additional Technical Information | Hearing Loss | GJB6 DEL, Hearing Loss |
2008803 | Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication | Hearing Loss | EHL PANEL, hearing loss, nonsyndromic, syndromic, nonsyndromic hearing loss, syndromic hearing loss, ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB31, PJVK, DIAPH1, DNMT1, DSPP, ESPN, ESRRB, EYA4, GJB2, Connexin 26, Connexin, GJB3, GJB6, Connexin 30, GPR98, GPSM2, GRHL2, HARS2, HSD17B4, KCNQ4, LHFPL5, MARVELD2, MASP1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, POU4F3, RDX, SLC26A4, SLC26A5, SMPX, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1, Usher, deafness, deaf, 3MC, Wolfram ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB31, DIAPH1, DNMT1, DSPP, ESRRB, EYA4, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, HARS2, HSD17B4, KCNQ4, LHFPL5, MARVELD2, MASP1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOF, PCDH15, PJVK, POU4F3, RDX, SLC26A4, SLC26A5, SMPX, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1, Connexin 26, Connexin 30, Usher, Wolfram, 3MC | |
2004686 | Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations | Hemoglobin Lepore | LEPORE, Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia | |
2005792 | Hemoglobin Evaluation Reflexive Cascade | Hemoglobinopathies | HB CASCADE | |
0050578 | Beta Globin (HBB) Gene Sequencing | Hemoglobinopathies | ||
2010117 | Beta Globin (HBB) Sequencing and Deletion/Duplication | Hemoglobinopathies | BG FGA, Beta thalassemia, beta globin, HBB | |
2010113 | Beta Globin (HBB) Deletion/Duplication | Hemoglobinopathies | BG DD, Beta thalassemia, beta globin, HBB | |
2011622 | Alpha Globin (HBA1 and HBA2) Deletion/Duplication | Hemoglobinopathies | HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin | |
0051495 | Alpha Thalassemia (HBA1 & HBA2) 7 Deletions | Hemoglobinopathies | ALPHA THAL, Hemoglobinopathies | |
3001957 | Gamma Globin (HBG1 and HBG2) Sequencing | Hemoglobinopathies | A-gamma, G-gamma | |
2004686 | Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations | Hemoglobinopathies | LEPORE, Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia | |
0050610 | Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility | Hemoglobinopathies | ||
0050520 | Hemoglobin S, Evaluation with Reflex to RBC Solubility | Hemoglobinopathies | SCKL | |
2013399 | Hemoglobin S, Sickle Solubility | Hemoglobinopathies | SICKLE | |
2002984 | Oxygen Dissociation (P50) by Hemoximetry | Hemoglobinopathies | HEMOX | |
0049090 | Heinz Body Stain | Hemoglobinopathies | Unstable Hemoglobinopathies, Hemolytic Anemias | |
2005757 | Carboxyhemoglobin Quantitation, Whole Blood by Co-Oximetry | Hemoglobinopathies | CARBOXY HB | |
0049020 | Hemoglobin, Unstable | Hemoglobinopathies | HGB UNSTAB | |
2004686 | Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations | Hemoglobinopathies | LEPORE, Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia | |
2001614 | Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication | Hemophilia A | F8 COMP, Factor VIII, Factor 8, bleeding, classic hemophilia | |
2001759 | Hemophilia A (F8) 2 Inversions | Hemophilia A | F8 INV, Factor VIII, Factor 8, bleeding, classic hemophilia | |
2001747 | Hemophilia A (F8) Sequencing | Hemophilia A | F8 FGS, Factor VIII, Factor 8, bleeding, classic hemophilia | |
2001755 | Hemophilia A (F8) 2 Inversions, Fetal | Hemophilia A | F8 INV FE, Factor VIII, Factor 8, bleeding, classic hemophilia | |
2001578 | Hemophilia B (F9) Sequencing | Hemophilia B | F9 FGS, Factor IX, Factor 9, bleeding, Christmas | |
2010494 | Hemophilia B (F9) Sequencing and Deletion/Duplication | Hemophilia B | Christmas disease, F9, Factor IX | |
2001614 | Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication | Hemophilias | F8 COMP, Factor VIII, Factor 8, bleeding, classic hemophilia | |
2001759 | Hemophilia A (F8) 2 Inversions | Hemophilias | F8 INV, Factor VIII, Factor 8, bleeding, classic hemophilia | |
2001747 | Hemophilia A (F8) Sequencing | Hemophilias | F8 FGS, Factor VIII, Factor 8, bleeding, classic hemophilia | |
2001755 | Hemophilia A (F8) 2 Inversions, Fetal | Hemophilias | F8 INV FE, Factor VIII, Factor 8, bleeding, classic hemophilia | |
2001578 | Hemophilia B (F9) Sequencing | Hemophilias | F9 FGS, Factor IX, Factor 9, bleeding, Christmas | |
2005480 | von Willebrand Disease, Type 2A (VWF) Sequencing Exon 28 with Reflex to 9 Exons | Hemophilias | VWF2A SEQ | |
2005494 | von Willebrand Disease, Type 2N (VWF) Sequencing | Hemophilias | VWF2N SEQ | |
2005490 | von Willebrand Disease, Type 2M (VWF) Sequencing | Hemophilias | VWF2M SEQ | |
2005486 | von Willebrand Disease, Type 2B (VWF) Sequencing | Hemophilias | VWF2B SEQ | |
2005476 | von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations | Hemophilias | GP1BA SEQ | |
2010494 | Hemophilia B (F9) Sequencing and Deletion/Duplication | Hemophilias | Christmas disease, F9, Factor IX | |
0055656 | Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C) | Hereditary Hemochromatosis | HFE PCR, HFE-associated hemochromatosis, HFE-HHC, iron overload | |
2012052 | Hereditary Hemolytic Anemia Panel, Sequencing | Hereditary Hemolytic Anemia | HHA SEQ, CANCER DD, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-JegherHHA SEQ, RBC membrane defects; RBC enzymopathies; Hereditary spherocytosis; Hereditary elliptocytosis; Hereditary pyropoikilocytosis; Dehydrated hereditary stomatocytosis; Xerocytosis, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer | |
2009337 | Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication | Hereditary Hemorrhagic Telangiectasia (HHT) | HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4 | |
2009008 | Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication | Hereditary Hemorrhagic Telangiectasia (HHT) | HHT REFLEX, hereditary hemorrhagic telangiectasia | |
0051382 | ACVRL1 and ENG Sequencing and Deletion/Duplication | Hereditary Hemorrhagic Telangiectasia (HHT) | HHT FGA, hereditary hemorrhagic telangiectasia | |
0051381 | ACVRL1 and ENG Sequencing | Hereditary Hemorrhagic Telangiectasia (HHT) | HHT-FGS, hereditary hemorrhagic telangiectasia | |
2001971 | Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication | Hereditary Hemorrhagic Telangiectasia (HHT) | SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis | |
0051510 | Juvenile Polyposis (SMAD4) Sequencing | Hereditary Hemorrhagic Telangiectasia (HHT) | SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre, Juvenile Polyposis | |
2010015 | Telangiectasia Syndrome (BMP9/GDF2) Sequencing | Hereditary Hemorrhagic Telangiectasia (HHT) | BMP9 FGS, capillary malformations, HHT, HHT5 | |
2007384 | Vascular Malformations Panel, Sequencing and Deletion/Duplication, 10 Genes | Hereditary Hemorrhagic Telangiectasia (HHT) | VACS PANEL, RASA1, ENG, ACVRL1/ALK1, SMAD4, PTEN, TIE2/TEK, GLMN, KRIT1/CCM1, CCM2, CCM3, capillary malformation, telangiectasia, arteriovenous malformation, AVM, HHT, hereditary hemorrhagic telangiectasia, Parkes Weber, CM-AVM, Multiple cutaneous and mucosal, VMCM, Proteus, PS, cavernous, venous, glomuvenous, GVM | |
2007390 | Vascular Malformations Sequencing, 10 Genes | Hereditary Hemorrhagic Telangiectasia (HHT) | VACS SEQ, RASA1, ENG, ACVRL1/ALK1, SMAD4, PTEN, TIE2/TEK, GLMN, KRIT1/CCM1, CCM2, CCM3, capillary malformation, telangiectasia, arteriovenous malformation, AVM, HHT, hereditary hemorrhagic telangiectasia, Parkes Weber, CM-AVM, Multiple cutaneous and mucosal, VMCM, Proteus, PS, cavernous, venous, glomuvenous, GVM | |
2007380 | Vascular Malformations Deletion/Duplication, 10 Genes | Hereditary Hemorrhagic Telangiectasia (HHT) | VASC DD, RASA1, ENG, ACVRL1, ALK1, SMAD4, PTEN, TIE2. TEK, GLMN, KRIT1, CCM1, CCM2, CCM3, capillary malformation, telangiectasia, arteriovenous malformation, AVM, HHT, hereditary hemorrhagic telangiectasia, Parkes Weber, CM-AVM, Multiple cutaneous and mucosal, VMCM, Proteus, PS, cavernous, venous, glomuvenous, GVM | |
0051750 | BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation | Hereditary Non-Polyposis Colon Cancer (HNPCC) | BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers | |
2002499 | MLH1 Promoter Methylation, Paraffin | Additional Technical Information | Hereditary Non-Polyposis Colon Cancer (HNPCC) | MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers |
0051650 | HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication | Hereditary Non-Polyposis Colon Cancer (HNPCC) | MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch | |
0051654 | HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication | Additional Technical Information | Hereditary Non-Polyposis Colon Cancer (HNPCC) | MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
0051656 | HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication | Additional Technical Information | Hereditary Non-Polyposis Colon Cancer (HNPCC) | MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
0051737 | HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication | Additional Technical Information | Hereditary Non-Polyposis Colon Cancer (HNPCC) | PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
2001728 | HNPCC/Lynch Syndrome Deletion/Duplication | Additional Technical Information | Hereditary Non-Polyposis Colon Cancer (HNPCC) | HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome |
2007167 | Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel | Hereditary Paraganglioma-Pheochromocytoma Syndromes | ||
2006948 | SDHB with Interpretation by Immunohistochemistry | Hereditary Paraganglioma-Pheochromocytoma Syndromes | ||
2011461 | Hereditary Paraganglioma-Pheochromocytoma (SDHA) Sequencing | Additional Technical Information | Hereditary Paraganglioma-Pheochromocytoma Syndromes | SDHA FGS |
2007108 | Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication | Additional Technical Information | Hereditary Paraganglioma-Pheochromocytoma Syndromes | |
2007117 | Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication | Additional Technical Information | Hereditary Paraganglioma-Pheochromocytoma Syndromes | |
2007122 | Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication | Additional Technical Information | Hereditary Paraganglioma-Pheochromocytoma Syndromes | |
2011264 | HLA Class I Panel (ABC) by NGS | HLA Testing | HLA I NGS | |
2011272 | HLA Class II (DRB1 and DQB1) by NGS | HLA Testing | HLA II NGS | |
2012482 | HLA-A by Next Generation Sequencing | HLA Testing | HLA A NGS | |
2012486 | HLA-B by Next Generation Sequencing | HLA Testing | HLA B NGS | |
2012490 | HLA-C by Next Generation Sequencing | HLA Testing | HLA C NGS | |
2012494 | HLA-DRB1 by Next Generation Sequencing | HLA Testing | HLA DRB1 | |
2012498 | HLA-DQB1 by Next Generation Sequencing | HLA Testing | HLA DQB1 | |
2012502 | HLA-DPB1 by Next Generation Sequencing | HLA Testing | HLA DPB1 | |
2012049 | HLA-B*15:02 Genotyping, Carbamazepine Hypersensitivity | HLA-B*15:02 (Carbamazepine Hypersensitivity) Genotyping | ||
2002429 | HLA-B*5701 Associated Variant Genotyping for Abacavir Sensitivity | HLA-B*5701 (Abacavir Sensitivity) Genotyping | HLA-B5701, Pharmacogenetics (PGx), HIV Drug Resistance, HIV, Abacavir sensitivity, Ziagene, Abacavir hypersensitivity, ABC HSR | |
3001393 | HLA-B*58:01 Genotyping, Allopurinol Hypersensitivity | HLA-B*58:01 (Allopurinol Hypersensitivity) Genotyping | ||
0050392 | Ankylosing Spondylitis (HLA-B27) Genotyping | HLA-B27 (Ankylosing Spondylitis) Genotyping | HLAB27 PCR, IBD | |
2008848 | Holoprosencephaly Panel, Sequencing and Deletion/Duplication | Holoprosencephaly | HPE PAN, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2 | |
2008863 | Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal | Holoprosencephaly | HPE PAN FE, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2 | |
0040018 | Huntington Disease (HD) Mutation by PCR | Huntington Disease | HD, Huntington chorea, CAG trinucleotide repeats, HTT | |
0051367 | Hypochondroplasia (FGFR3) 2 Mutations | Hypochondroplasia | HYPOCH, Skeletal Dysplasias, N540K, c.1620C>A, c.1620C>G | |
2006274 | Inherited Insulin Resistance Syndromes (INSR) Sequencing | Additional Technical Information | Insulin Resistance Syndromes | INSR FGS Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans Insulin Receptor, Defect in, with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans IRAN Type A Donohue Syndrome Insulin Receptor Defect Leprechaunism Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities Rabson-Mendenhall Syndrome |
2004680 | Interleukin 28 B (IL28B)—Associated Variants, 2SNPs | Interleukin 28 B Associated SNP—Genotyping | IL28B, Hepatitis C Virus (HCV), peginterferon, interferon, PEG-IFNα | |
2004992 | Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication | Juvenile Polyposis | BMPR1A FGA, JPS, SMAD4 | |
2004988 | Juvenile Polyposis (BMPR1A) Sequencing | Juvenile Polyposis | BMPR1A FGS, JPS, SMAD4, Juvenile Polyposis | |
2001971 | Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication | Juvenile Polyposis | SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis | |
0051510 | Juvenile Polyposis (SMAD4) Sequencing | Juvenile Polyposis | SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre, Juvenile Polyposis | |
2009306 | Kabuki Syndrome (KMT2D) Sequencing | Kabuki Syndrome | KMT2D FGS, MLL2 | |
3002001 | Kell K/k Antigen (KEL) Genotyping | Kell Antigen Genotyping | KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano | |
2008347 | Legius Syndrome (SPRED1) Sequencing and Deletion/Duplication | Legius Syndrome | LS FGA, SPRED1 | |
2002945 | Legius Syndrome (SPRED1) Sequencing | Legius Syndrome | LS FGS, SPRED1, Neurofibromatosis, LS, NF 1-like | |
2009313 | Li-Fraumeni (TP53) Sequencing and Deletion/Duplication | Li-Fraumeni Syndrome | TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
2009302 | Li-Fraumeni (TP53) Sequencing | Li-Fraumeni Syndrome | TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
2004543 | LMNA-Related Disorders (LMNA) Sequencing | LMNA–Related Disorders | LMNA FGS, Muscular dystrophy-related laminopathy, laminopathies, Emery-Dreifuss muscular dystrophy type 2, EDMD2, Limb Girdle muscular dystrophy 1B, LGMD1B, Hutchinson-Gilford progeria, HGPS, Charcot-Marie-Tooth 2B1, CMT2B1, Familial partial lipodystrophy Dunnigan type, FLPD, dilated cardiomyopathy, DCM, mandibulo-acral dysplasia, MAD, atypical Werner,C236 WS, restrictive dermopathy, RD | |
2004539 | LMNA-Related Disorders (LMNA) Deletion/Duplication | LMNA–Related Disorders | LMNA DD, Muscular dystrophy-related laminopathy, laminopathies, Emery-Dreifuss muscular dystrophy type 2, EDMD2, Limb Girdle muscular dystrophy 1B, LGMD1B, dilated cardiomyopathy, DCM | |
2002705 | TGFBR1 & TGFBR2 Sequencing | Loeys-Dietz Syndrome | LDS FGS, Loeys-Dietz, aortic aneurysm | |
0051750 | BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation | Lynch Syndrome | BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers | |
2002499 | MLH1 Promoter Methylation, Paraffin | Additional Technical Information | Lynch Syndrome | MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers |
0049302 | Mismatch Repair by Immunohistochemistry | Additional Technical Information | Lynch Syndrome | MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch |
0051740 | Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR | Additional Technical Information | Lynch Syndrome | MSI PCR, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair |
2005270 | Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation | Additional Technical Information | Lynch Syndrome | MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch |
0051650 | HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication | Lynch Syndrome | MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch | |
0051654 | HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication | Additional Technical Information | Lynch Syndrome | MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
0051656 | HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication | Additional Technical Information | Lynch Syndrome | MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
0051737 | HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication | Additional Technical Information | Lynch Syndrome | PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
2001728 | HNPCC/Lynch Syndrome Deletion/Duplication | Additional Technical Information | Lynch Syndrome | HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome |
2012266 | Lysosomal Acid Lipase Activity, Dried Blood Spot | Lysosomal Acid Lipase | Wolman Disease | |
2005584 | Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication | Marfan Syndrome and Marfan/FBN1-Related Disorders | FBN1 FGA | |
2005589 | Marfan Syndrome (FBN1) Sequencing | Marfan Syndrome and Marfan/FBN1-Related Disorders | FBN1 FGS | |
0051205 | Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations | Medium Chain Acyl-CoA Dehydrogenase (MCAD) | MCADPCR, Medium-chain acyl-coa dehydrogenase, fatty acid oxidation, MCAD deficiency, ACADM | |
0051758 | Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing | Additional Technical Information | Medium Chain Acyl-CoA Dehydrogenase (MCAD) | MCAD FGS, Medium-chain acyl-coa dehydrogenase, fatty acid oxidation, MCAD Deficiency ACADM Sequencing |
2007872 | ATP7A-Related Copper Transport Disorders (ATP7A), Sequencing | Menkes and Occipital Horn Syndromes | ATP7A FGS, Menkes disease, occipital horn syndrome, X-linked cutis laxa, ATP7A-related distal motor neuropathy, MNK | |
0055655 | Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations | Methylenetetrahydrofolate Reductase (MTHFR) | MTHFR PCR, Thrombophilia, methotrexate sensitivity, cardiovascular, C677T, A1298C | |
2005255 | Methylmalonic Acid, Serum or Plasma (Metabolic Disorders) | Methylmalonic Acid | MMA METD Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA | |
0049302 | Mismatch Repair by Immunohistochemistry | Additional Technical Information | Microsatellite Instability (MSI) | MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch |
0051740 | Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR | Additional Technical Information | Microsatellite Instability (MSI) | MSI PCR, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair |
2005270 | Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation | Additional Technical Information | Microsatellite Instability (MSI) | MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch |
0051755 | Molar Pregnancy, 16 DNA Markers | Molar Pregnancy | MOL PREG, Gestational Trophoblastic Disease | |
2012259 | Keratan Sulfate, Quantitative by LC-MS/MS, Urine | Mucolipidosis IV | Keratan Sulfate, Quantitative by LC-MS/MS, Urine, MPS IVa | |
0051448 | Mucolipidosis Type IV (MCOLN1), 2 Variants | Mucolipidosis IV | MCOLN1, Jewish Genetic, lysosomal | |
0081352 | Mucopolysaccharides Electrophoresis and Quantitation, Urine | Mucopolysaccharidoses (MPS) | MPS SCREEN Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI Hunter Syndrome Mucopolysaccharidosis Type II I2S Deficiency Iduronate 2-Sulfatase Deficiency MPS II IDS Iduronate 2-sulfatase MPSII MPS IIIA Mucopolysaccharidosis Type IIIA Sanfilippo Syndrome Type A SGSH N-sulphoglucosamine sulphohydrolase MPS III MPSIII MPS IIIB Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B NAGLU Alpha-N-acetylglucosaminidase MPS IIIC Mucopolysaccharidosis Type IIIC Sanfilippo Syndrome Type C HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase MPS IIID Mucopolysaccharidosis Type IIID Sanfilippo Syndrome Type D GNS N-acetylglucosamine-6-sulfatase Morquio Syndrome Type A Mucopolysaccharidosis Type IVA MPS IVA GALNS N-acetylgalactosamine-6-sulfatase MPSIV MPS IV Morquio Syndrome Type B Mucopolysaccharidosis Type IVB MPS IVB GLB2 Beta-galactosidase Arylsulfatase B Deficiency Mucopolysaccharidosis Type VI Maroteaux-Lamy Syndrome MPS VI ARSB Arylsulfatase B MPSVI Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII Glucuronidase Deficiency MPS MPS VII Sly Syndrome GUSB Beta-glucuronidase MPSVII | |
0081357 | Mucopolysaccharides, Quantitative, Urine | Mucopolysaccharidoses (MPS) | MPS QNT Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI Hunter Syndrome Mucopolysaccharidosis Type II I2S Deficiency Iduronate 2-Sulfatase Deficiency MPS II IDS Iduronate 2-sulfatase MPSII MPS IIIA Mucopolysaccharidosis Type IIIA Sanfilippo Syndrome Type A SGSH N-sulphoglucosamine sulphohydrolase MPS III MPSIII MPS IIIB Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B NAGLU Alpha-N-acetylglucosaminidase MPS IIIC Mucopolysaccharidosis Type IIIC Sanfilippo Syndrome Type C HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase MPS IIID Mucopolysaccharidosis Type IIID Sanfilippo Syndrome Type D GNS N-acetylglucosamine-6-sulfatase Morquio Syndrome Type A Mucopolysaccharidosis Type IVA MPS IVA GALNS N-acetylgalactosamine-6-sulfatase MPSIV MPS IV Morquio Syndrome Type B Mucopolysaccharidosis Type IVB MPS IVB GLB1 Beta-galactosidase Arylsulfatase B Deficiency Mucopolysaccharidosis Type VI Maroteaux-Lamy Syndrome MPS VI ARSB Arylsulfatase B MPSVI Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII Glucuronidase Deficiency MPS MPS VII Sly Syndrome GUSB Beta-glucuronidase MPSVII | |
2011415 | Alpha-Iduronidase Enzyme Activity in Leukocytes | Mucopolysaccharidoses (MPS) | A-I LEUK Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI | |
2007599 | Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro) Quantitative, Serum or Plasma | Mucopolysaccharidoses (MPS) | MPSI QNT S, Alpha-L-Iduronidase Deficiency, Mucopolysaccharidosis Type I, IDUA Deficiency, MPS I, Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome, IDUA, Alpha-L-iduronidase, MPSI | |
2007488 | Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro) Quantitative, Urine | Mucopolysaccharidoses (MPS) | MPSI QNT U, Alpha-L-Iduronidase Deficiency, Mucopolysaccharidosis Type I, IDUA Deficiency, MPS I, Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome, IDUA, Alpha-L-iduronidase, MPSI | |
2008775 | Mucopolysaccharidosis Type II, Total HS and NRE (Sensi-Pro) Quantitative, Serum or Plasma | Mucopolysaccharidoses (MPS) | MPS2 QNT S, Hunter Syndrome, Mucopolysaccharidosis Type II, I2S Deficiency, Iduronate 2-Sulfatase Deficiency, MPS II, IDS, Iduronate 2-sulfatase, MPSII | |
2009282 | Mucopolysaccharidosis Type II, Total HS and NRE (Sensi-Pro) Quantitative, Urine | Mucopolysaccharidoses (MPS) | MPS2 QNT U, Hunter Syndrome, Mucopolysaccharidosis Type II, I2S Deficiency, Iduronate 2-Sulfatase Deficiency, MPS II, IDS, Iduronate 2-sulfatase, MPSII | |
2005360 | Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication | Multiple Endocrine Neoplasia Type 1 (MEN1) | MEN1 FGA, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN) | |
2005359 | Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing | Multiple Endocrine Neoplasia Type 1 (MEN1) | MEN1 FGS, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN) | |
0051390 | Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing | Multiple Endocrine Neoplasia Type 2 (MEN2) | MEN2 SEQ, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene | |
2011241 | Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing | Muscular Dystrophy | DMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD | |
2011235 | Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication | Muscular Dystrophy | DMD DD, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD | |
2011153 | Duchenne/Becker Muscular Dystrophy (DMD) Sequencing | Muscular Dystrophy | DMD SEQ, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD | |
2011231 | Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal | Muscular Dystrophy | DMD DD FE, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD | |
3001907 | Myotonic Dystrophy Type 1 (DMPK) CTG Expansion | Muscular Dystrophy | ||
2005023 | Narcolepsy (HLA-DQB1*06:02) Genotyping | Narcolepsy | NARCOLEPSY, Narcolepsy, HLA-DQB1, sleep | |
2007154 | Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication | Neurofibromatosis Type 1 | ||
2007159 | Neurofibromatosis Type 1 (NF1) Sequencing | Neurofibromatosis Type 1 | ||
2001952 | Neurofibromatosis Type 1 (NF1) Deletion/Duplication | Additional Technical Information | Neurofibromatosis Type 1 | |
0051458 | Niemann-Pick, Type A (SMPD1), 4 Variants | Niemann-Pick Disease Type A | SMPD1, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del | |
2014599 | Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping | Non-Alcoholic Fatty Liver Disease | hepatic steatosis genotyping | |
2007537 | Non-Invasive Prenatal Testing for Fetal Aneuploidy | Non-Invasive Prenatal Testing (Cell-Free DNA) | NIPT ANEU, NIPD, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome, InformaSeq, Qnatal, Pregnancy Screen | |
2013142 | Non-Invasive Prenatal Testing for Fetal Aneuploidy with 22q11.2 Microdeletion | Additional Technical Information | Non-Invasive Prenatal Testing (Cell-Free DNA) | NIPT ANEU, NIPD, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome, InformaSeq, Qnatal, Pregnancy Screen |
2010232 | Non-Invasive Prenatal Testing for Fetal Aneuploidy with Microdeletions | Non-Invasive Prenatal Testing (Cell-Free DNA) | NIPTANEUMD, NIPD, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome, Microdeletion, deletion, DiGeorge, Velocardiofacial, VCF, VCFS, 22q, del22, Angelman, Prader-Willi, 15q, PWS, 5p-, 5p, cri du chat, cri-du-chat, 1p36, InformaSeq, Qnatal, Pregnancy Screen | |
0051805 | Noonan Syndrome (PTPN11) Sequencing | Noonan Syndrome | PTPN11 FGS, Neurocognitive Impairments, NS, SOS1, Leopard, Noonan-like/multiple giant-cell lesion, Metachondromatosis | |
2004189 | Noonan Syndrome (PTPN11) Sequencing with Reflex to (SOS1) Sequencing | Noonan Syndrome | NS REFLEX, Neurocognitive Impairments, NS, Leopard, Noonan-like/multiple giant-cell lesion | |
2004195 | Noonan Syndrome (SOS1) Sequencing | Noonan Syndrome | SOS1 FGS, Neurocognitive Impairments, NS, PTPN11, Leopard, Noonan-like/multiple giant-cell lesion | |
2010772 | Noonan Spectrum Disorders Panel, Sequencing | Noonan Syndrome | NOONAN SEQ, BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1/MEK1, MAP2K2/MEK2, NRAS, PTPN11, RAB20AL, RAF, RIT1, SHOC2, SOS1, SPRED1, Noonan Syndrome, Cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, LEOPARD syndrome, Noonan-like syndrome with loose anagen hair | |
2010769 | Noonan Spectrum Disorders Panel, Sequencing, Fetal | Noonan Syndrome | NOONAN FE, BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1/MEK1, MAP2K2/MEK2, NRAS, PTPN11, RAB20AL, RAF, RIT1, SHOC2, SOS1, SPRED1, Noonan Syndrome, Cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, LEOPARD syndrome, Noonan-like syndrome with loose anagen hair | |
2002292 | Chromosome Analysis, Bone Marrow | Oncology Studies | Acute Lymphoblastic Leukemia, Acute Myelogenous Leukemia, MDS, B-cell lymphomas, T-cell lymphomas | |
2002290 | Chromosome Analysis, Leukemic Blood | Oncology Studies | Acute Lymphoblastic Leukemia, Acute Myelogenous Leukemia, MDS, B-cell lymphomas, T-cell lymphomas | |
2007130 | Bone Marrow, Chromosome Analysis with Reflex to Genomic Microarray | Oncology Studies | ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia | |
2007131 | Leukemic Blood, Chromosome Analysis with Reflex to Genomic Microarray | Oncology Studies | ||
2002300 | Chromosome Analysis, Lymph Node | Oncology Studies | CHR ONC, biopsy, karyotype, cancer, oncology, lymphoma | |
2002296 | Chromosome Analysis, Solid Tumor | Oncology Studies | CHR ST, Sarcoma, Ewings | |
2002647 | Acute Lymphocytic Leukemia (ALL) Panel by FISH, Adult | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH A ALL, B-Cell Lymphoma, MYC BCR-ABL1, MLL, IGH@, TCF3, E2A | |
2002719 | Acute Lymphocytic Leukemia (ALL) Panel by FISH, Pediatric | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH P ALL, Oncology, Bone Marrow , B-Cell Lymphoma, childhood, child, children, CEP4, CEP10, BCR-ABL1 MLL, ETV6-RUNX1, TEL-AML1 | |
2002653 | Acute Myelogenous Leukemia (AML) with Myelodysplastic Syndrome (MDS), or Therapy-Related AML, by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | F TAML MDS, Myelodysplastic syndrome, Acute Myeloid Leukemia, EGR1, D7S486, MLL | |
2011132 | Acute Myelogenous Leukemia Panel by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH AML P, Acute Myeloid Leukemia, AML, Myeloproliferative, MPD, PML-RARA, RUNX1T1-RUNX1, ETO-AML1, CBFB, MLL, RPN1/MECOM, EVI1, EGR1, D7S486, KMT2A | |
2002295 | Chromosome FISH, CLL Panel | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH CLLP, Chronic Lymphocytic Leukemia, CLL, Lymphoma Phenotyping, B-Cell Lymphomas, Tumor Markers, ATM, D12Z3, D13S319, TP53, p53 | |
2006270 | Chromosome FISH, Multiple Myeloma Panel Process and Hold | Oncology Studies, FISH—Blood and Bone Marrow Panels | MMF PR &HLD | |
2002378 | Eosinophilia Panel by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH EOS P, Mast Cell Disease, Eosinophilic Diseases, Acute Myeloid Leukemia (AML), Myeloproliferative Neoplasms (MPN), PDGFRA-CHIC2-FIP1L1, PDGFRB, FGFR1, CBFB | |
2002650 | Lymphoma (Aggressive) Panel by FISH | Additional Technical Information | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH ALYMP, Lymphoma Phenotyping, B-Cell Lymphomas, Lymphoproliferative Disorders (LPD), BCL6, MYC, IGH@/BCL2 |
2002294 | Multiple Myeloma Panel by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH MMP, Plasma Cell Dyscrasias, CKS1B, ASS1, CCND1-IGH@, IGH@, PML, TP53, FGFR3-IGH@, IGH@-MAF | |
2002709 | Myelodysplastic Syndrome (MDS) Panel by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH MDS P, Myelodysplastic Syndrome (MDS), EGR1, D7S486, CEP8, D20S108 | |
2002360 | Myeloproliferative Disorders Panel by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH MPD P, Chronic Myelogenous Leukemia (CML), Myeloproliferative Neoplasms (MPN), PDGFRα-CHIC2-FIP1L1, PDGFRa-CHIC2-FIP1L1, PDGFRβ, FGFR1, ABL1-BCR | |
2002363 | PML/RARα Translocation by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH PML, Acute Myeloid Leukemia (AML), Acute Promyelocytic Leukemia (APL), Tumor Markers | |
2011132 | Acute Myelogenous Leukemia Panel by FISH | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | FISH AML P, Acute Myeloid Leukemia, AML, Myeloproliferative, MPD, PML-RARA, RUNX1T1-RUNX1, ETO-AML1, CBFB, MLL, RPN1/MECOM, EVI1, EGR1, D7S486, KMT2A | |
2002298 | Chromosome FISH, Interphase—ASS1; +9/9q34 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Multiple Myeloma; Chronic Myelogenous Leukemia; CML | |
2002298 | Chromosome FISH, Interphase—ATM; del(11)(q22.3) | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Chronic Lymphocytic Leukemia; CLL | |
2002298 | Chromosome FISH, Interphase—BCL6; 3q27 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Diffuse large cell lymphoma; Aggressive lymphoma | |
2002298 | Chromosome FISH, Interphase—BCR-ABL1; t(9;22)(q34;q11.2) | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Myeloproliferative Disorder; Chronic Myelogenous Leukemia; CML; Acute Lymphocytic Leukemia; ALL; Adult; Pediatric | |
2002298 | Chromosome FISH, Interphase—CBFB; inv(16)(p13.3q22)/t(16;16)(p13;q22) | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Eosinophilia; Acute Myeloid Leukemia; AML | |
2002298 | Chromosome FISH, Interphase—CCND1-IGH@; t(11;14)(q13;q32) | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Multiple Myeloma; Mantle cell lymphoma | |
2002298 | Chromosome FISH, Interphase—Chromosome 10, centromere | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Acute Lymphocytic Leukemia; ALL; Pediatric | |
2002298 | Chromosome FISH, Interphase—Chromosome 4, centromere | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Acute Lymphocytic Leukemia; ALL; Pediatric | |
2002298 | Chromosome FISH, Interphase—Chromosome 8, centromere | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Myelodysplastic Syndrome | |
2002298 | Chromosome FISH, Interphase—CKS1B; 1q21 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Multiple Myeloma | |
2002298 | Chromosome FISH, Interphase—D12Z3; +12 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Chronic Lymphocytic Leukemia; CLL | |
2002298 | Chromosome FISH, Interphase—D13S319; del(13)(q14.3) | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Chronic Lymphocytic Leukemia; CLL | |
2002298 | Chromosome FISH, Interphase—D20S108; del(20)(q12) | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Myelodysplastic Syndrome | |
2002298 | Chromosome FISH, Interphase—D7S486; del(7)(q31)/-7 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Myelodysplastic Syndrome; Acute Myelogenous Leukemia; AML; Therapy-related AML | |
2002298 | Chromosome FISH, Interphase—DDIT3 (CHOP); 12q13 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Myxoid Liposarcoma | |
2002298 | Chromosome FISH, Interphase—EGR1; del(5)(q31) | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Myelodysplastic Syndrome; Acute Myelogenous Leukemia; AML; Therapy-related AML | |
2002298 | Chromosome FISH, Interphase—ETV6-RUNX1 (TEL-AML1); t(12;21)(p13;q22) | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Acute Lymphocytic Leukemia; ALL; Pediatric | |
2002298 | Chromosome FISH, Interphase—EWSR1; 22q12.2 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Ewing sarcoma; Ewings | |
2002298 | Chromosome FISH, Interphase—FGFR1; 8p12 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Myeloproliferative Disorder; Eosinophilia | |
2002298 | Chromosome FISH, Interphase—FGFR3-IGH@; t(4;14)(p16;q32) | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Multiple Myeloma | |
2002298 | Chromosome FISH, Interphase—IGH@-BCL2; t(14;18)(q32;q21) | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Follicular lymphoma; Aggressive lymphoma | |
2002298 | Chromosome FISH, Interphase—IGH@-MAF; t(14;16)(q32;q23.1) | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Multiple Myeloma | |
2002298 | Chromosome FISH, Interphase—IGH@; 14q32 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Multiple Myeloma; IGH rearrangement; lymphoma; Acute Lymphocytic Leukemia; ALL; Adult | |
2002298 | Chromosome FISH, Interphase—MALT1; 18q21 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Lymphoma | |
2002298 | Chromosome FISH, Interphase—MLL; 11q23 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Acute Myelogenous Leukemia; AML; Acute Myeloid Leukemia; Therapy-related AML; Acute Lymphocytic Leukemia; ALL; Adult; Pediatric | |
2002298 | Chromosome FISH, Interphase—MYC; 8q24 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Burkitt lymphoma; Aggressive lymphoma; Acute Lymphocytic Leukemia; ALL; Adult | |
2002298 | Chromosome FISH, Interphase—PDGFRα-CHIC2-FIP1L1; 4q12 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Myeloproliferative Disorder; Eosinophilia | |
2002298 | Chromosome FISH, Interphase—PDGFRβ; 5q32 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Myeloproliferative Disorder; Eosinophilia | |
2002298 | Chromosome FISH, Interphase—PML-RARA; t(15;17)(q22;q21) | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Acute Myeloid Leukemia; AML | |
2002298 | Chromosome FISH, Interphase—PML; +15 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Multiple Myeloma | |
2002298 | Chromosome FISH, Interphase—RUNX1T1-RUNX1 (ETO-AML1); t(8;21)(q22;q22) | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Acute Myeloid Leukemia; AML | |
2002298 | Chromosome FISH, Interphase—SS18 (SYT); 18q11.2 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Synovial sarcoma | |
2002298 | Chromosome FISH, Interphase—TCF3 (E2A); 19p13 | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Acute Lymphocytic Leukemia; ALL; Adult | |
2002298 | Chromosome FISH, Interphase—TP53 (p53); del(17)(p13.1) | Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | Multiple Myeloma; Chronic Lymphocytic Leukemia; CLL | |
2002528 | Pancreatobiliary FISH | Oncology Studies, FISH—Other | PF, Pancreatic Cancer, Tumor Markers | |
2001181 | UroVysion FISH | Oncology Studies, FISH—Other | UF, Bladder Cancer, Tumor Markers, urine | |
3001309 | 1p/19q Deletion by FISH | Additional Technical Information | Oncology Studies, FISH—Paraffin Block | 1p19q, Oncology, Paraffin, Brain Tumors, Tumor |
2008603 | ERBB2 (HER-2/neu) Gene Amplification by FISH, Tissue | Oncology Studies, FISH—Paraffin Block | HER2FISH, Breast Cancer, Tumor Markers, FISH, herceptin, HER2, HER-2, neu, HER2/neu, pathvision, pathvysion | |
2007227 | MYCN (N-MYC) Gene Amplification by FISH | Additional Technical Information | Oncology Studies, FISH—Paraffin Block | NMYC, Neuroblastoma, Tumor Markers |
3001303 | SS18 (SYT) (18q11) Gene Rearrangement by FISH | Additional Technical Information | Oncology Studies, FISH—Paraffin Block | |
3001495 | Aggressive B-Cell Lymphoma Reflex Panel by FISH, Tissue | Additional Technical Information | Oncology Studies, FISH—Paraffin Block | |
3001304 | DDIT3 (CHOP) (12q13) Gene Rearrangement by FISH | Additional Technical Information | Oncology Studies, FISH—Paraffin Block | CHOPFISH, Sarcoma, myxoid liposarcoma, round cell liposarcoma |
3001310 | EGFR Gene Amplification by FISH | Additional Technical Information | Oncology Studies, FISH—Paraffin Block | EGFRFISH, Head and Neck Cancer, Lung Cancer, Brain Tumors |
3001305 | EWSR1 (22q12) Gene Rearrangement by FISH | Additional Technical Information | Oncology Studies, FISH—Paraffin Block | EWSR1, Ewing Sarcoma, Sarcoma, Tumor Markers |
3001297 | FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH | Additional Technical Information | Oncology Studies, FISH—Paraffin Block | FKHRFISH, Sarcoma, FOX, FOXO1, 13q14, alveolar rhabdomyosarcoma |
3001298 | IGH-BCL2 Fusion, t(14;18) by FISH for Detection in Follicular Lymphoma | Additional Technical Information | Oncology Studies, FISH—Paraffin Block | B-Cell Lymphomas, Follicular lymphoma, Diffuse large B-cell lymphoma, FISH |
3001306 | IGH-CCND1 Fusion, t(11;14) by FISH | Additional Technical Information | Oncology Studies, FISH—Paraffin Block | Mantle cell lymphoma, B-Cell Lymphomas, Plasma cell dyscrasias, Tumor Markers |
3001299 | IGH-MYC Fusion t(8;14) by FISH | Additional Technical Information | Oncology Studies, FISH—Paraffin Block | Burkitt lymphoma, B-Cell Lymphomas |
3001301 | MDM2 Gene Amplification by FISH | Additional Technical Information | Oncology Studies, FISH—Paraffin Block | MDM2 FISH, Sarcoma, Tumor Markers, MDM2, Murine Double Minute 2 |
3001300 | MYC (8q24) Gene Rearrangement by FISH | Additional Technical Information | Oncology Studies, FISH—Paraffin Block | Burkitt lymphomas, B-Cell Lymphomas, Double Hit lymphomas, Tumor Markers |
2007130 | Bone Marrow, Chromosome Analysis with Reflex to Genomic Microarray | Oncology Studies, Microarray | ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia | |
2007131 | Leukemic Blood, Chromosome Analysis with Reflex to Genomic Microarray | Oncology Studies, Microarray | ||
2010229 | Cytogenomic Molecular Inversion Probe Array, Copy Number and Heterozygosity Assessment - Formalin-Fixed Paraffin-Embedded (FFPE) Tissue | Oncology Studies, Microarray | FFPE ARRAY, array CGH; aCGH; Array Comparative Genomic Hybridization; Chromosomal Microarray; CMA; CGH; Microarray; Single-nucleotide-polymorphism (SNP) array; Whole Genome Array; tumor; oncology, formalin-fixed, paraffin-embedded, FFPE; tissue | |
2006325 | Cytogenomic SNP Microarray—Oncology | Additional Technical Information | Oncology Studies, Microarray | CMA ONC ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia |
2012182 | Myeloid Malignancies Somatic Mutation and Copy Number Analysis Panel | Oncology Studies, Microarray | MYE CMANGS same as CMA ONC, MYE NGS | |
2008767 | Opioid Receptor, Mu (OPRM1) Genotype, 1 Variant | Additional Technical Information | Opioid Receptor, Mu | OPRM1, opioid receptor, mu, mu receptor, naltrexone, opioid dependency, alcoholism |
0098389 | Organic Acids, Urine | Organic Acids | ORG AC 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency HMG-CoA Lyase Deficiency HMGCL Hydroxymethylglutaryl-CoA lyase, mitochondrial HMG Lyase Deficiency 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency HADH Deficiency HADH Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial SCHAD MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC1 MCCC2 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial 3 MCC 3MCC 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconyl-CoA Hydratase Deficiency AUH Methylglutaconyl-CoA hydratase, mitochondrial MGA1 MGA 1 5-Oxoprolinuria Glutathione Synthetase Deficiency Oxoprolinase Deficiency Pyroglutamicaciduria GSS Glutathione synthetase Pyroglutamic Aciduria Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Alkaptonuria Alcaptonuria HGD Homogentisate 1,2-dioxygenase Homogentisic acid Canavan Disease ASPA deficiency Aspartoacylase Deficiency ASPA Aspartoacylase NAA N-acetylaspartic acid N acetyl aspartic acid Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid Fatty Acid Oxidation Disorders FAOD GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I Glycerol Kinase Deficiency GKD Hyperglycerolemia GK Glycerol kinase Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Hyperoxaluria, Primary, Type 1 Alanine-Glyoxylate Aminotransferase Deficiency Glycolic Aciduria Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency AGXT Serine--pyruvate aminotransferase oxalate Isovaleric Acidemia IVD Isovaleryl-CoA dehydrogenase, mitochondrial IVA Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency LCHAD Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial Malonyl-CoA Decarboxylase Deficiency Malonic Aciduria MLYCD Malonyl-CoA decarboxylase, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA Mevalonicaciduria Mevalonate Kinase Deficiency MVK Mevalonate kinase mevalonic acid Multiple Acyl-CoA Dehydrogenase Deficiency Ethylmalonic-Adipicaciduria Glutaric Acidemia II Glutaric Aciduria II MADD ETFA Electron transfer flavoprotein subunit alpha, mitochondrial ETFB Electron transfer flavoprotein subunit beta ETFDH Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial GA2 GA 2 GA II GAII Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Propionicacidemia Propionic Acidemia PCCA-Related Propionic Acidemia PCCB-Related Propionic Acidemia PCCA Propionyl-CoA carboxylase alpha chain, mitochondrial PCCB Propionyl-CoA carboxylase beta chain, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS Succinic Semialdehyde Dehydrogenase Deficiency 4-Hydroxybutyric Aciduria Gamma-Hydroxybutyric Aciduria SSADH Deficiency ALDH5A1 Succinate-semialdehyde dehydrogenase, mitochondrial Trifunctional Protein Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial HADHB Trifunctional enzyme subunit beta, mitochondrial Tyrosinemia Type I FAH Deficiency Fumarylacetoacetase Deficiency Fumarylacetoacetate Hydrolase Deficiency Hepatorenal Tyrosinemia Hereditary Tyrosinemia Type I FAH Fumarylacetoacetase Tyrosinemia Type II Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Tyrosinemia Oregon Type Tyrosinemia Richner-Hanhart Syndrome TAT Deficiency Tyrosine Aminotransferase Deficiency Tyrosine Transaminase Deficiency TAT Tyrosine aminotransferase Tyrosinemia Type III 4-Hydroxyphenylpyruvate Dioxygenase Deficiency HPD 4-hydroxyphenylpyruvate dioxygenase Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Very Long Chain Acyl-CoA Dehydrogenase Deficiency | VLCAD Deficiency ACADVL Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | |
0099289 | Organic Acids, Plasma | Organic Acids | ORG AC P | |
2004896 | Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication | Ornithine Transcarbamylase Deficiency | OTC FGA, Urea cycle | |
2004901 | Ornithine Transcarbamylase Deficiency (OTC) Sequencing | Ornithine Transcarbamylase Deficiency | OTC FGS, Urea cycle | |
3000704 | Orotic Acid, Urine | Orotic Acid | OROTIC ACI Arginase Deficiency Hyperargininemia ARG1 Arginase-1 ARG 1 Arginemia Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency ASL Deficiency ASL Argininosuccinate lyase ASA lyase deficiency Carbamoylphosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase Deficiency CPS1 Deficiency CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial CPS 1 CPS I Citrullinemia Type I Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Citrullinemia, Classic CTLN1 ASS1 ASS1 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Orotic Aciduria UMPS Uridine 5'-monophosphate synthase | |
2012026 | Hereditary Breast and Ovarian Cancer Panel, Sequencing and Deletion/Duplication | Ovarian Cancer | BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 | |
2011949 | Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication | Ovarian Cancer | BRCA FGA, BRACA, HBOC | |
2011954 | Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing | Ovarian Cancer | BRCA FGS, BRACA, HBOC | |
0051650 | HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication | Ovarian Cancer | MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch | |
0051654 | HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication | Additional Technical Information | Ovarian Cancer | MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
0051656 | HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication | Additional Technical Information | Ovarian Cancer | MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
0051737 | HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication | Additional Technical Information | Ovarian Cancer | PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
2001728 | HNPCC/Lynch Syndrome Deletion/Duplication | Additional Technical Information | Ovarian Cancer | HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome |
2010876 | Pancreatitis, Panel (CFTR, CTRC, PRSS1, SPINK1) Sequencing | Pancreatitis | ||
3001768 | Pancreatitis (PRSS1) Sequencing and Deletion/Duplication | Pancreatitis | ||
3001760 | Pancreatitis (PRSS1) Deletion/Duplication | Pancreatitis | ||
2002012 | Pancreatitis, (SPINK1) Sequencing | Pancreatitis | SPINK1 FGS, Idiopathic pancreatitis, acute pancreatitis, N34S, PSTI, pancreatic secretory trypsin inhibitor | |
3001764 | Pancreatitis (SPINK1) Deletion/Duplication | Pancreatitis | ||
2010703 | Pancreatitis (CTRC) Sequencing | Pancreatitis | Idiopathic pancreatitis, CTRC Sequencing | |
2002658 | Familial Mediterranean Fever (MEFV) Sequencing | Periodic Fever Syndromes | FMF FGS, DNA | |
2007370 | Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication | Periodic Fever Syndromes | PRFEVERPAN, MEFV, MVK, LPIN2, TNFRSF1A, NLRP3, CIAS1, ELANE, ELA2, PSTPIP1, pyrin, mevalonate kinase, lipin-2, tumor necrosis factor receptor 1, cryopyrin, neutrophil elastase, proline-serine-threonine phosphatase-interacting protein 1, CD2-binding protein 1, Familial Mediterranean Fever, FMF, Hyperimmunoglobulinemia D syndrome, HIDS, Majeed Syndrome, TRAPS, Familial Cold Autoinflammatory Syndrome, FCAS, Muckle-Wells Syndrome, neonatal onset multisystem inflammatory disease, NOMID, chronic infantile neurological cutaneous and articular syndrome, CINCA, Severe Congenital Neutropenia, Cyclic Neutropenia, Kostmann syndrome, genetic infantile agranulocytosis, Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, PAPA ELANE/ELA2, LPIN2, MEFV, MVK, NLRP3/CIAS1, PSTPIP1, TNFRSF1A, chronic infantile neurological cutaneous and articular syndrome (CINCA), Cyclic Neutropenia, Familial Cold Autoinflammatory Syndrome (FCAS), Familial Mediterranean Fever (FMF), Hyperimmunoglobulinemia D syndrome (HIDS), Majeed Syndrome, Muckle-Wells Syndrome, neonatal onset multisystem inflammatory disease (NOMID), Severe Congenital Neutropenia, [Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, (PAPA)], Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) | |
2004250 | Very Long-Chain and Branched-Chain Fatty Acids Profile | Peroxisomal Disorders | VLCFA Adrenoleukodystrophy, X-Linked X-ALD Adrenomyeloneuropathy ABCD1 ATP-binding cassette sub-family D member 1 XALD X ALD ABCD 1 Peroxisomal Bifunctional Enzyme Deficiency HSD17B4 Peroxisomal multifunctional enzyme type 2 Pseudoneonatal Adrenoleukodystrophy Peroxisomal Acyl-CoA Oxidase Deficiency ACOX1 Peroxisomal acyl-coenzyme A oxidase 1 Refsum Disease Adult Refsum Disease Hereditary Motor and Sensory Neuropathy IV Phytanic Acid Oxidase Deficiency Phytanic Acid Storage Disease Refsum Syndrome PEX7-Related Refsum Disease PHYH-Related Refsum Disease PEX7 Peroxisomal targeting signal 2 receptor PHYH Phytanoyl-CoA dioxygenase, peroxisomal Zellweger Syndrome Spectrum Neonatal Adrenoleukodystrophy Refsum Disease, Infantile Zellweger Syndrome PEX1 Peroxisome biogenesis factor 1 PEX10 Peroxisome assembly protein 10 PEX12 Peroxisome assembly protein 12 PEX13 Peroxisomal membrane protein PEX13 PEX14 Peroxisomal membrane protein PEX14 PEX16 Peroxisomal membrane protein PEX16 PEX19 Peroxisomal biogenesis factor 19 PEX2 Peroxisome assembly factor 1 PEX26 Peroxisome assembly protein 26 PEX3 Peroxisomal biogenesis factor 3 PEX5 Peroxisomal targeting signal 1 receptor PEX6 Peroxisome assembly factor 2 ZSS NALD IRD Infantile Refsum | |
2008398 | Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication | Peutz-Jeghers | STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation | |
2008394 | Peutz-Jeghers Syndrome (STK11) Sequencing | Peutz-Jeghers | STK11, STK11 FGS, hamartomatous polyps, mucocutaneous hypergigmentation | |
0080336 | Phenylalanine and Tyrosine, Plasma (monitoring only) | Phenylalanine | PHE/TYR, PKU | |
0080315 | Phenylalanine Monitoring, Plasma (monitoring only) | Phenylalanine | QNTPHE, PKU | |
2007406 | Pipecolic Acid, Serum or Plasma | Pipecolic Acid | PIPECOL SP, peroxisome, Zellweger, Neonatal Adrenoleukodystrophy, Refsum, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PBD Peroxisome Biogenesis, ZSS, NALD, IRD | |
2008131 | Pipecolic Acid, Urine | Pipecolic Acid | PIPECOL U, Peroxisome, Zellweger, Neonatal Adrenoleukodystrophy, Refsum, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PBD | |
2004980 | Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping | Plasminogen Activator Inhibitor-1 | PAI-1 GENO, Fibrinolytic, thrombosis-associated PAI-1 activity, serpin peptidase inhibitor, 4G/4G, 4G/5G, thrombotic risk | |
3000193 | Platelet Antigen Genotyping Panel | Platelet Antigen Genotyping | HPA PAN, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT | |
3001170 | Platelet Antigen 1 Genotyping (HPA-1) | Platelet Antigen Genotyping | HPA1, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT | |
2012250 | Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing and Deletion/Duplication | Polycystic Kidney Disease | ADPKD FGA Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 ADPKD Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 Polycystic kidney disease type 2 DPKD Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 Polycystic kidney disease type 2 Adult polycystic kidney disease (APKD) | |
2012255 | Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing | Polycystic Kidney Disease | ADPKD FGS ADPKD Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 Polycystic kidney disease type 2 Adult polycystic kidney disease (APKD) | |
2014463 | Pompe Disease (GAA), Enzyme Activity in Leukocytes | Pompe Disease | ||
2005077 | Angelman Syndrome and Prader-Willi Syndrome by Methylation | Prader-Willi Syndrome | AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments | |
2002299 | Chromosome FISH, Metaphase—Prader-Willi syndrome (15q11.2-13) | Prader-Willi Syndrome | PWS; D15S10 | |
2012232 | Angelman Syndrome and Prader-Willi Syndrome by Methylation, Fetal | Prader-Willi Syndrome | AS PWS FE Prader-Labhart-Willi Syndrome, AS, PWS | |
2011156 | Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication | Primary Antibody Deficiency | PAD PANEL, ADA, AICDA, ATM, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, ICOS, IGHM, IGLL1, IKBKG, LRBA, LRRC8A, MRE11A, MS4A1, NBN/NBS1, NFKB2, NFKBIA, PIK3CD, PIK3R1, PLCG2, PRKCD, PTPRC, RAG2, SH2D1A, TNFRSF13B, TNFRSF13C, UNG, VAV1, XIAP/BIRC4, CVID, common variable immunodeficiency, common variable immune deficiency, common variable hypogammaglobulinemia, IgA deficiency, selective IgA deficiency, selective IgM deficiency, IgG deficiency, IgG subclass deficiency, hypogammaglobulinemia, agammaglobulinemia, panhypogammaglobulinemia, Hyper-IgM syndrome, HIGM syndrome, HIGM1, HIGM2, HIGM3, HIGM4, HIGM5, immunoglobulin class-switch deficiency, selective antibody deficiency, anti-polysaccharide antibody deficiency, late-onset combined immunodeficiency, late-onset immunoglobulin deficiency, B cell deficiency | |
0056060 | Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II) | Prothrombin (Factor II) | PT PCR, F2, G20210A, thrombosis, plasma prothrombin, thrombophilia, clotting | |
2002722 | PTEN-Related Disorders Sequencing | PTEN-Related Disorders | PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism | |
2002470 | PTEN-Related Disorders Sequencing and Deletion/Duplication | PTEN-Related Disorders | PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism | |
2003405 | Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication | Pulmonary Arterial Hypertension (PAH) | BMPR2 FGA, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH | |
2003410 | Pulmonary Arterial Hypertension (BMPR2) Sequencing | Pulmonary Arterial Hypertension (PAH) | BMPR2 FGS, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH | |
2010696 | EIF2AK4-Associated Disorders (EIF2AK4) Sequencing | Pulmonary Arterial Hypertension (PAH) | ||
2009345 | Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication | Pulmonary Arterial Hypertension (PAH) | PAH PANEL, ACVRL1/ALK1, BMPR2, CAV1, ENG, KCNK3, EIF2AK4 | |
3002059 | Pyruvate Kinase Deficiency (PKLR) Sequencing | Pyruvate Kinase Deficiency | ||
2012849 | Rapid Mendelian Genes Sequencing Panel, Trio | Rapid Sequencing | RAPID SEQ | |
2007852 | RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication | RASA1-Related Disorders | RASA1 FGA, RASA1, CM-AVM, Parkes Weber | |
2002730 | RASA1-Related Disorders (RASA1) Sequencing | RASA1-Related Disorders | RASA1 FGS, Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain, arteriovenous malformations, AVM, CM-AVM, Parkes-Weber, PKWS | |
2002965 | Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication | Renal Cancer | VHL FGA, Brain Tumors, Pheochromocytoma | |
2002970 | Von Hippel-Lindau (VHL) Sequencing | Renal Cancer | VHL FGS, Congenital polycythemia | |
2010214 | Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication | Renal Cancer | RENCAPAN, RENCAPAN, renal, cancer, BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, leiomyomatosis, Mesothelioma, birt-hogg-dube, HNPCC, lynch, Cowden, Bannayan-Riley-Ruvalcaba, Proteus, Li-Fraumeni, Tuberous sclerosis, Von Hippel BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, Birt-Hogg-Dube, leiomyomatosis, mesothelioma, tuberous sclerosis (TS), von Hippel-Lindau | |
2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Renal Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
2009313 | Li-Fraumeni (TP53) Sequencing and Deletion/Duplication | Renal Cancer | TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
2009302 | Li-Fraumeni (TP53) Sequencing | Renal Cancer | TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
2007085 | Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication | Retinitis Pigmentosa/Leber Congenital Amaurosis | RP PANEL, LCA, Stargardt disease, cone-rod dystrophy, retinopathy, Nephronophthisis, Coats-like vasculopathy, preserved para-arteriolar RPE (PPRPE), S-cone syndrome, adult vitelliform MD, Peripapillary atrophy, macular atrophy, Oguchi, ABCA4, AIPL1 ,BEST1, C2ORF71, CA4, CDHR1, CEP290, CERKL, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FSCN2, GUCA1B, GUCY2D, IDH3B, IMPDH1, KLHL7, LCA5, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PRCD, PROM1, PRPF3, PRPF31, PRPF8, RD3, RDH12, RDS, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, , SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, adult vitelliform MD, Coats-like vasculopathy, cone-rod dystrophy, macular atrophy, Nephronophthisis, Oguchi, Peripapillary atrophy, preserved para-arteriolar RPE (PPRPE), retinopathy, S-cone syndrome, Stargardt disease | |
0051378 | Rett Syndrome (MECP2), Full Gene Sequencing | Rett Syndrome | RETT FGS, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments | |
0051614 | Rett Syndrome (MECP2), Full Gene Analysis | Rett Syndrome | RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments | |
0051368 | Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) | Rh Genotyping | RHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic | |
3002002 | RhC/c (RHCE) Antigen Genotyping | Rh Genotyping | RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility | |
3002003 | RhE/e (RHCE) Antigen Genotyping | Rh Genotyping | RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility | |
2006240 | Schwachman-Diamond Syndrome (SBDS) Sequencing | Schwachman-Diamond Syndrome | SBDS FGS, GeneDx | |
3000147 | Maternal Serum Screening, Integrated, Specimen #1, PAPP-A, NT | Additional Technical Information | Serum Screening—First- and Second-Trimester Combined | MS INT1, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester |
3000149 | Maternal Serum Screening, Integrated, Specimen #2, Alpha Fetoprotein, hCG, Estriol, and Inhibin A | Additional Technical Information | Serum Screening—First- and Second-Trimester Combined | MS INT2, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester |
3000146 | Maternal Screening, Sequential, Specimen #1, hCG, PAPP-A, NT | Serum Screening—First- and Second-Trimester Combined | MS SEQ1, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester | |
3000148 | Maternal Screening, Sequential, Specimen #2, Alpha Fetoprotein, hCG, Estriol, and Inhibin A | Additional Technical Information | Serum Screening—First- and Second-Trimester Combined | MS SEQ2, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester |
3000145 | Maternal Serum Screen, First Trimester, hCG, PAPP-A, NT | Additional Technical Information | Serum Screening—First-Trimester | MS FTS, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, hCG |
3000144 | Maternal Serum Screen, Alpha Fetoprotein | Serum Screening—Second-Trimester | MS AFP, Prenatal Screening, NTD, neural tube defects, second trimester | |
3000143 | Maternal Serum Screen, Alpha Fetoprotein, hCG, Estriol, and Inhibin A (Quad) | Serum Screening—Second-Trimester | MS QUAD, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester | |
3001401 | SHOX-Related Disorders, Deletion/Duplication with Reflex to Sequencing | SHOX-Related Disorders | ||
3001399 | SHOX-Related Disorders, Sequencing | SHOX-Related Disorders | ||
3001395 | SHOX-Related Disorders, Deletion/Duplication | SHOX-Related Disorders | ||
0050520 | Hemoglobin S, Evaluation with Reflex to RBC Solubility | Sickle Cell Anemia | SCKL | |
2012010 | Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal | Skeletal Dysplasia | SKEL FE, chondrodysplasia, osteogenesis imperfecta, achondrogenesis, hypophosphatasia, Kniest, pseudoachondroplasia, spondylocostal sysostosis, short rib thoracic dystrophy, short rib polydactaly, Ellis van Crevald, achondroplasia, frontometaphyseal dysplasia, atelosteogenesis, dyssegmental dysplasia, Sliverman-Handmaker, Schwartz-Jampel, Asphyxiatic thoracic dystrophy, Greenburg dysplasia, Stuve-Wiedeman, Antely Bixler, cleidocranial dysplasia, diastrophic dysplasia, metaphyseal dysplasia, schneckenbecken, metrotrophic dysplasia, cranioectodermal dysplasia, sensenbrenner, Jeune, AGPS, ALPL, ARSE, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFT80, LBR, LIFR, NEK1, P3H1, PEX7, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4, TTC21B, WDR19, WDR35 | |
2012015 | Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication | Skeletal Dysplasia | SKEL PANEL, chondrodysplasia, osteogenesis imperfecta, achondrogenesis, hypophosphatasia, Kniest, pseudoachondroplasia, spondylocostal sysostosis, short rib thoracic dystrophy, short rib polydactaly, Ellis van Crevald, achondroplasia, frontometaphyseal dysplasia, atelosteogenesis, dyssegmental dysplasia, Sliverman-Handmaker, Schwartz-Jampel, Asphyxiatic thoracic dystrophy, Greenburg dysplasia, Stuve-Wiedeman, Antely Bixler, cleidocranial dysplasia, diastrophic dysplasia, metaphyseal dysplasia, schneckenbecken, metrotrophic dysplasia, cranioectodermal dysplasia, sensenbrenner, Jeune, AGPS, ALPL, ARSE, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFT80, LBR, LIFR, NEK1, PEX7, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4, TTC21B, WDR19, WDR35 | |
2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Skin Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
2009313 | Li-Fraumeni (TP53) Sequencing and Deletion/Duplication | Skin Cancer | TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
2009302 | Li-Fraumeni (TP53) Sequencing | Skin Cancer | TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
2011457 | Smith-Lemli-Opitz Syndrome (DHCR7) Sequencing | Smith-Lemli-Opitz Syndrome | DHCR7 FGS, SLO, SLOS, Smith Lemli Opitz, SLO syndrome | |
2011704 | Smith-Lemli-Opitz Syndrome (DHCR7) Sequencing, Fetal | Smith-Lemli-Opitz Syndrome | DHCR7 FGS FE, SLO, SLOS, Smith Lemli Opitz, SLO syndrome | |
2013436 | Spinal Muscular Atrophy (SMA) Copy Number Analysis | Spinal Muscular Atrophy (SMA) | SMA DD | |
2013444 | Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal | Spinal Muscular Atrophy (SMA) | SMA DD FE | |
2008426 | SLCO1B1, 1 Variant | Statin Sensitivity | SLCO1B1, stimvastatin, Solute Carrier Organic Anion Transporter Family Member 1B1, rs4149056C, SLCO1B1*5, OATP1B1, organic anion-transporter polypeptide 1B1 | |
2007401 | Succinylacetone, Quantitative, Urine | Succinylacetone | Tyrosinemia Type I, FAH, Fumarylacetoacetase, Fumarylacetoacetate Hydrolase, Hepatorenal, SUAC URINE | |
2007569 | TACI-Associated Common Variable Immunodeficiency (TNFRSF13B) Sequencing | TACI-Associated Common Variable Immunodeficiency | TACI FGS, CVID/CVID2; Immunoglobulin A (IgA) deficiency; Selective IgA deficiency-2 (IGAD2); Tumor necrosis factor receptor superfamily, member 13B; Antibody deficiency due to TACI defect; Hypogammaglobulinemia due to TACI deficiency | |
2008129 | Hexosaminidase A and Total Hexosaminidase in Plasma with Reflex to Hexosaminidase A and Total Hexosaminidase in Leukocytes | Tay-Sachs Disease | HEXO RFLX, Tay-Sachs, HEX A Deficiency, GM2 Gangliosidosis, HEXA | |
2008121 | Hexosaminidase A and Total Hexosaminidiase, Plasma or Serum | Tay-Sachs Disease | HEXOS A P/S, Tay-Sachs, HEX A Deficiency, GM2 Gangliosidosis, HEXA | |
2008125 | Hexosaminidase A and Total Hexosaminidase in Leukocytes | Tay-Sachs Disease | HEXOA LEUK, Tay-Sachs, HEX A Deficiency, GM2 Gangliosidosis, HEXA | |
2009298 | Tay-Sachs Disease (HEXA) Sequencing and 7.6kb Deletion | Tay-Sachs Disease | HEXA FGS | |
0051428 | Tay-Sachs Disease (HEXA), 7 Variants | Tay-Sachs Disease | HEXA, Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W | |
0051506 | Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations | Thanatophoric Dysplasia | TD PAN, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism | |
0051508 | Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations, Fetal | Thanatophoric Dysplasia | TD PAN FE, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism | |
3001535 | TPMT and NUDT15 | Thiopurine Methyltransferase | 6-mercaptopurine; 6-MP; 6-TG; 6-thioguanine; AZA toxicity; Azathioprine; S-adenosyl-L-methionine genotype; Thioguanine; Thiopurine; nudix | |
0030133 | Thrombotic Risk, Inherited Etiologies (Most Common) with Reflex to Factor V Leiden | Thrombotic Risk | THROM COM, Venous thrombosis, Thromboembolism, Thrombophilia, Factor V Leiden, F5, R506Q, F2, G20210A, thrombosis, plasma prothrombin, clotting | |
0056200 | Thrombotic Risk, DNA Panel (FVL, Factor II, MTHFR) | Thrombotic Risk | THROMDNA, Thrombophilia, cardiovascular, C677T, A1298C, F2, G20210A, thrombosis, plasma prothrombin, Factor V Leiden, F5, R506Q, methylenetetrahydrofolate reductase, venous thrombosis, thromboembolism, clotting | |
0050547 | Twin Zygosity (16 markers) | Twin Zygosity Testing | TWIN ZYG, Fetal zygosity, mono/dizygotic differentiation | |
0080355 | Tyrosine, Plasma | Tyrosine | TYRO, Tyrosinemia | |
3001755 | UGT1A1 Sequencing | UGT1A1 Gene Analysis | Crigler-Najjar type 1 (CN1), Crigler-Najjar type 2 (CN2) | |
0051332 | UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping | UGT1A1 Gene Analysis | UGT1A1, Irinotecan, Pharmacogenetics (PGx), Colorectal Cancer | |
2007384 | Vascular Malformations Panel, Sequencing and Deletion/Duplication | Vascular Malformation Syndromes | VACS PANEL, RASA1, ENG, ACVRL1/ALK1, SMAD4, PTEN, TIE2/TEK, GLMN, KRIT1/CCM1, CCM2, CCM3, capillary malformation, telangiectasia, arteriovenous malformation, AVM, HHT, hereditary hemorrhagic telangiectasia, Parkes Weber, CM-AVM, Multiple cutaneous and mucosal, VMCM, Proteus, PS, cavernous, venous, glomuvenous, GVM ACVRL1/ALK1, BMP9/GDF2, BMPR2, CAV1, CCM1/KRIT1, CCM2, CCM3/PDCD10, ENG, GLMN, KCNK3, PTEN, RASA1, SMAD4, TEK/TIE2, CM-AVM, Parkes Weber syndrome (PKWS), Proteus (PS) | |
—see Cerebral Cavernous Malformation (CCM) | Vascular Malformation Syndromes | |||
—see Hereditary Hemorrhagic Telangiectasia (HHT) | Vascular Malformation Syndromes | |||
—see RASA1-Related Disorders | Vascular Malformation Syndromes | |||
2009337 | Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication | Vascular Malformation Syndromes | HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4 | |
2007852 | RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication | Vascular Malformation Syndromes | RASA1 FGA, RASA1, CM-AVM, Parkes Weber | |
2002730 | RASA1-Related Disorders (RASA1) Sequencing | Vascular Malformation Syndromes | RASA1 FGS, Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain, arteriovenous malformations, AVM, CM-AVM, Parkes-Weber, PKWS | |
2009008 | Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication | Vascular Malformation Syndromes | HHT REFLEX, hereditary hemorrhagic telangiectasia | |
0051382 | ACVRL1 and ENG Sequencing and Deletion/Duplication | Vascular Malformation Syndromes | HHT FGA, hereditary hemorrhagic telangiectasia | |
0051381 | ACVRL1 and ENG Sequencing | Vascular Malformation Syndromes | HHT-FGS, hereditary hemorrhagic telangiectasia | |
2010015 | Telangiectasia Syndrome (BMP9/GDF2) Sequencing | Vascular Malformation Syndromes | BMP9 FGS, capillary malformations, HHT, HHT5 | |
2004212 | Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication | Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) | VLCAD FGA | |
2002001 | Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing | Additional Technical Information | Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) | VLCAD FGS |
2002965 | Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication | Von Hippel-Lindau/Congenital Polycythemia | VHL FGA, Brain Tumors, Pheochromocytoma | |
2002970 | Von Hippel-Lindau (VHL) Sequencing | Von Hippel-Lindau/Congenital Polycythemia | VHL FGS, Congenital polycythemia | |
2005480 | von Willebrand Disease, Type 2A (VWF) Sequencing Exon 28 with Reflex to 9 Exons | von Willebrand Disease | VWF2A SEQ | |
2005494 | von Willebrand Disease, Type 2N (VWF) Sequencing | von Willebrand Disease | VWF2N SEQ | |
2005490 | von Willebrand Disease, Type 2M (VWF) Sequencing | von Willebrand Disease | VWF2M SEQ | |
2005486 | von Willebrand Disease, Type 2B (VWF) Sequencing | von Willebrand Disease | VWF2B SEQ | |
2005476 | von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations | von Willebrand Disease | GP1BA SEQ | |
3001541 | Warfarin Sensitivity (CYP2C8, CYP2C9, CYP4F2, VKORC1) Genotyping | Warfarin Genotyping | warfarin, Coumadin | |
2010716 | Wilson Disease (ATP7B) Sequencing | Wilson Disease | ||
2006352 | X-Chromosome Inactivation Analysis | Additional Technical Information | X-Chromosome Inactivation | XCI |
2011906 | Adrenoleukodystrophy, X-Linked (ABCD1) Sequencing and Deletion/Duplication | X-Linked Adrenoleukodystrophy | ABCD1 FGA, XLALD,XL-ALD | |
2011902 | Adrenoleukodystrophy, X- Linked (ABCD1) Sequencing | X-Linked Adrenoleukodystrophy | ABCD1 FGS, XLALD, XL-ALD | |
2001778 | Y Chromosome Microdeletion | Y Chromosome Microdeletion | Y CHROM, Male Infertility, PCR |