ARUP Genetics Test Menu

Test # Test Name Additional Information Test Keywords
2007228 5-Fluorouracil (5-FU) Toxicity and Chemotherapeutic Response, 7 Mutations 5-Fluorouracil Sensitivity 5-FU, 5-Fluorouracil Toxicity and Chemotherapeutic Response Panel, Pharmacogenetics (PGx), Colorectal Cancer
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
2006230 Alagille Syndrome (JAG1) by Targeted Sequencing and Deletion/Duplication Alagille Syndrome JAG1 FGA
0080427 Alpha Fetoprotein (Amniotic Fluid) with Reflex to Acetylcholinesterase and Fetal Hemoglobin Alpha Fetoprotein, Amniotic Fluid AFP AF, Prenatal Screening and Diagnosis
0051495 Alpha Thalassemia (HBA1 & HBA2) 7 Deletions Alpha Thalassemia ALPHA THAL, Hemoglobinopathies
2001582 Alpha Globin (HBA1 and HBA2) Sequencing Alpha Thalassemia AG FGS, Hemoglobinopathies
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
2002394 Alport Syndrome, X-linked (COL4A5) Deletion/Duplication Alport Syndrome ALPORT DD Renal disease, chronic kidney disease, hematuria
0051710 Alport Syndrome, Adult Type (COL4A5), 3 Mutations Alport Syndrome ALPORT DNA Renal disease, chronic kidney disease, hematuria
0080710 Amino Acids Quantitative, 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
0080044 Amino Acids Quantitative, 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
2002299 Chromosome FISH, Metaphase—Angelman syndrome (15q11.2-13) Angelman Syndrome AS; D15S10
2006540 Aortopathy Panel, Sequencing and Deletion/Duplication, 10 Genes 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
2006617 Aortopathy Sequencing, 10 Genes Aortopathies AORT SEQ, Thoracic aortic aneurysms, dissections, familial thoracic TAAD AAT, ACTA2 (AAT6), FBN1, MYH11 (AAT4), MYLK (AAT7), SMAD3, TGFBR1 (AAT5), TGFBR2 (AAT3), SLC2A10, FBN2, COL3A1
2006546 Aortopathy Deletion/Duplication, 10 Genes Aortopathies AORT DD, Thoracic aortic aneurysms, dissections, familial thoracic TAAD AAT, ACTA2 (AAT6), FBN1, MYH11 (AAT4), MYLK (AAT7), SMAD3, TGFBR1 (AAT5), TGFBR2 (AAT3), SLC2A10, FBN2, COL3A1
2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication Aortopathies FBN1 FGA
2005589 Marfan Syndrome (FBN1) Sequencing Aortopathies FBN1 FGS
2005580 Marfan Syndrome (FBN1) Deletion/Duplication Aortopathies FBN1 DD
2002701 Loeys-Dietz Syndrome (TGFBR1 & TGFBR2) Sequencing & Deletion/Duplication Aortopathies LDS FGA, Loeys-Dietz, aortic aneurysm
2002705 TGFBR1 & TGFBR2 Sequencing Aortopathies LDS FGS, Loeys-Dietz, aortic aneurysm
2002697 TGFBR1 & TGFBR2 Deletion/Duplication Aortopathies LDS DELDUP, 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)
0055566 Apolipoprotein E (APOE) 2 Mutations, Cardiovascular Risk Apolipoprotein E (APOE) APO E, Risk Markers - CVD (Non-traditional)
0051415 Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA) Ashkenazi Jewish Panel (8 disorders) AJP, ewish Genetic, Fanconi's, Fanconis
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
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
0040011 Fragile X (FMR1) Diagnostic Autism FRAG X, Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia
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
0051614 Rett Syndrome (MECP2), Full Gene Analysis Autism RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
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
2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication Autism CDKL5 FGA, X-linked infantile spasm
2004434 X Chromosome Ultra-High Density Microarray, 954 Genes Autism X ARRAY, Neurocognitive Impairments, X-linked, mental retardation, pervasive developmental delay, seizures, x chromosome, MR, ID, DD, autism, ASD, PDD
0050578 Beta Globin (HBB) Sequencing Beta Globin BGSEQ, Thalassemias, Hemoglobinopathies
0050388 Beta Globin (HBB) Sequencing, Fetal Beta Globin
0051422 Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Beta Globin HB SCE FE
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
0051700 Biotinidase Deficiency (BTD), 5 Mutations Biotinidase Deficiency BTD MUT, Multiple carboxylase
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
0050421 RhCc Antigen (RHCE) Genotyping Blood Genotyping RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
0050423 RhEe Antigen (RHCE) Genotyping Blood Genotyping RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
0051644 Kell Antigen Genotyping (KEL1/KEL2) Blood Genotyping KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
2004739 Blood Group Genotyping by Microarray Blood Genotyping BLD GROUP8
0051433 Bloom Syndrome (BLM) 2281del6/ins 7 Mutation Bloom Syndrome BLM, Jewish Genetic
0051434 Bloom Syndrome (BLM) 2281del6/ins 7 Mutation, Fetal Bloom Syndrome BLM FE, Jewish Genetic
2006218 Brugada Syndrome Panel, 7 Genes Brugada Syndrome BRS PANEL
0051453 Canavan Disease (ASPA) 4 Mutations Canavan Disease ASPA, Jewish Genetic
0051454 Canavan Disease (ASPA) 4 Mutations, Fetal Canavan Disease ASPA FE, Jewish Genetic
2006216 Arrhytmogenic Right Ventricular Cardiomyopathy (ARVC) Panel, 7 Genes Cardiomyopathy ARVC PANEL, Ventricular Dysplasia
2006226 Dilated Cardiomyopathy (DCM)/Left Ventricular Noncompaction (LVNC) Panel, 27 genes Cardiomyopathy DCM PANEL, Left Ventricular Noncompaction
2006265 Hypertrophic Cardiomyopathy (HCM) Panel, 18 Genes Cardiomyopathy HCM PAN, Amyloid Cardiomyopathy, Transthyretin-Related, Amyloid Polyneuropathy, Amyloidosis, Danon Disease, Fabry, Hypertrophic
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
0080512 Carnitine Transport, Fibroblasts Carnitine CARNIFIBRO 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
2004199 Carnitine Deficiency, Primary (SLC22A5) Deletion/Duplication Carnitine Deficiency PCD DELDUP, OCTN2, carnitine uptake
2001933 Cystic Fibrosis (CFTR) 32 Mutations Carrier Screening Panels CF PAN, Jewish Genetic, pregnancy screen, carrier screen, CF, mutation panel, common mutations
0051415 Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA) Carrier Screening Panels AJP, ewish Genetic, Fanconi's, Fanconis
2007539 Prenatal Carrier Screening Panel, 85 Disorders Additional Technical Information
Disorder List 		Carrier Screening Panels PCS PANEL, carrier screening, Counsyl, universal screen, prenatal carrier screen, expanded carrier screen
2007541 Prenatal Carrier Screening Panel, 85 Disorders with Fragile X Disorder List Carrier Screening Panels PCS PANFGX, carrier screening, Counsyl, universal screen, prenatal carrier screen, expanded carrier screen
2007543 Expanded Carrier Screening Panel, 100-Plus Disorders Disorder List Carrier Screening Panels ECS PANEL, carrier screening, Counsyl, universal screen, prenatal carrier screen, expanded carrier screen
2007531 Expanded Carrier Screening Panel, 100-Plus Disorders with Fragile X Disorder List Carrier Screening Panels ECS PANFGX, carrier screening, Counsyl, universal screen, prenatal carrier screen, expanded carrier screen
2006224 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel, 3 Genes Catecholaminergic Polymorphic Ventricular Tachycardia CPVT PANEL
2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication CDKL5-Related Disorders CDKL5 FGA, X-linked infantile spasm
2004931 CDKL5-Related Disorders (CDKL5) Sequencing CDKL5-Related Disorders CDKL5 FGS, X-linked infantile spasm
2004927 CDKL5-Related Disorders (CDKL5) Deletion and Duplication CDKL5-Related Disorders CDKL5 DD, X-linked infantile spasm
2005018 Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping Celiac Disease HLA CELIAC
2003152 CCM1 Sequencing Cerebral Cavernous Malformation (CCM) CCM1 FGS, Cerebral Cavernous Malformation
2003156 CCM2 Sequencing Cerebral Cavernous Malformation (CCM) CCM2 FGS, Cerebral Cavernous Malformation
2003160 CCM3 Sequencing Cerebral Cavernous Malformation (CCM) CCM3 FGS, Cerebral Cavernous Malformation
2003172 CCM1, CCM2, and CCM3 Deletion/Duplication Cerebral Cavernous Malformation (CCM) CCM DELDUP, Cerebral Cavernous Malformation
2003164 Cerebral Cavernous Malformation (CCM1) Sequencing with Reflex to (CCM1, CCM2 and CCM3) Deletion/Duplication with Reflex to (CCM2) Sequencing with Reflex to (CCM3) Sequencing Cerebral Cavernous Malformation (CCM) CCM COMP, Cerebral Cavernous Malformation
2006222 CHARGE Syndrome (CHD7) Sequencing CHARGE Syndrome CHARGE FGS
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
2006356 Chronic Granulomatous Disease (CYBB Gene Scanning and NCF1 Exon 2 GT Deletion) with Reflex to CYBB Sequencing Chronic Granulomatous Disease CGD PANEL, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II
2006361 Chronic Granulomatous Disease, X-linked (CYBB) Gene Scanning with Reflex to Sequencing Chronic Granulomatous Disease CYBB, 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
0081293 Maternal Screening, Sequential, Specimen #1 Combined First- and Second-Trimester Screening MS SEQ-1, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester
0081294 Maternal Screening, Sequential, Specimen #2 Combined First- and Second-Trimester Screening MS SEQ-2, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
0081062 Maternal Serum Screening, Integrated, Specimen #1 Combined First- and Second-Trimester Screening MS INT-1, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester
0081064 Maternal Serum Screening, Integrated, Specimen #2 Combined First- and Second-Trimester Screening MS INT-2, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
2006220 Congenital Amegakaryocytic Thrombocytopenia (CAMT) Sequencing Congenital Amegakaryocytic Thrombocytopenia CAMT FGS
2002289 Chromosome Analysis, Peripheral Blood Constitutional 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 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 Studies PB REFLEX, 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
2002293 Chromosome Analysis, Amniotic Fluid Constitutional 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
2002291 Chromosome Analysis, Chorionic Villus Sampling (CVS) Constitutional 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
2002288 Chromosome Analysis, Products of Conception Constitutional 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 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 Studies CHR SKIN, tissue, karyotype, mosaic, mosaicism
0097688 Chromosome Analysis, Breakage, Fanconi Anemia Patient History and Technical Information Constitutional Studies BREAKAGE, Fanconi anemia, Fanconi’s, Fanconis, diagnostic
2005749 Chromosome Analysis—Breakage, Ataxia Telangiectasia, Whole Blood Patient History and Technical Information Constitutional Studies BREAKAGEAT, Ataxia Telangiectasia, AT, diagnostic
2002328 Creatine Disorders Panel, Plasma or Serum 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 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
2001875 Creatine Transport, Fibroblasts Creatine GAMT, AGAT, SLC6A8, guanidinoacetate, GAA CRTN FIBRO 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
2001967 Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing and Reflex to Deletion/Duplication Cystic Fibrosis CF COMPR, Diagnostic, CF
2001933 Cystic Fibrosis (CFTR) 32 Mutations Cystic Fibrosis CF PAN, Jewish Genetic, pregnancy screen, carrier screen, CF, mutation panel, common mutations
2001968 Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing Cystic Fibrosis CF PAN-SEQ, Diagnostic, CF
0051110 Cystic Fibrosis (CFTR) Sequencing Cystic Fibrosis CF-CFTR, Diagnostic, CF
0051642 Cystic Fibrosis (CFTR) Deletion/Duplication Cystic Fibrosis CFTRDELDUP, Diagnostic, CF
0051640 Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication Cystic Fibrosis CFTR FGA, Diagnostic, CF
2001969 Cystic Fibrosis (CFTR) 32 Mutations, Atypical Cystic Fibrosis CF PAN 5T, Male infertility, CF, 5T, mutation panel, common mutations
2001970 Cystic Fibrosis (CFTR) 32 Mutations, Fetal Cystic Fibrosis CF PAN FE, Common mutations, prenatal, amnio, amniotic fluid, CVS, chorionic villi, CF, mutation panel
0050098 Cystic Fibrosis (CFTR) 3199del6 Mutation Cystic Fibrosis CF3199DEL6, I148T, CF
0056006 Cystic Fibrosis Cis-Trans (CFTR) R117H & 5T Mutations Cystic Fibrosis CFCIS-TRAN, CF
0056003 Cystic Fibrosis (CFTR) 5T Mutation Cystic Fibrosis IVS-8, CF
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
0051232 Cytochrome P450 2D6 (CYP2D6) 14 Mutations and Gene Duplication Cytochrome P450 CYP 2D6, Tamoxifen, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer, breast biomarkers
0051104 Cytochrome P450 2C19 (CYP2C19) 9 Mutations Cytochrome P450 CYP2C19, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer, breast biomarkers
0051103 Cytochrome P450 2C9 (CYP2C9) 2 Mutations Additional Technical Information Cytochrome P450 CYP2C9, Warfarin Sensitivity, Pharmacogenetics (PGx)
2006234 Diamond-Blackfan Anemia (RPL5) Sequencing Diamond-Blackfan Anemia RPL5 FGS
2006236 Diamond-Blackfan Anemia (RPL11) Sequencing Diamond-Blackfan Anemia RPL11 FGS
2006238 Diamond-Blackfan Anemia (RPS19) Sequencing Diamond-Blackfan Anemia RPS19 FGS
2006244 Dyskeratosis Congenita, Autosomal (TERC) Sequencing Dyskeratosis Congenita TERC FGS
2006228 Dyskeratosis Congenita, X-linked (DKC1) Sequencing Dyskeratosis Congenita DKC1 FGS
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
2005555 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Deletion/Duplication Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS-VI DD
2007535 Infantile Epilepsy Panel, Sequence Analysis and Exon-Level Deletion/Duplication, 38 Genes 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"
2007545 Childhood-Onset Epilepsy Panel, Sequencing and Deletion/Duplication, 40 Genes 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
2007547 Adolescent-Onset Epilepsy Panel, 21 Genes Additional Technical Information Epilepsy ADOL EPIL, SLC2A1, POLG, EFHC1, CACNB4, GABRA1, EPM2A, NHLRC1, EPM2B, CSTB, PRICKLE1, CHRNA4, CHRNB2, CHRNA2, LGI1, PPT1, CLN1, TPP1, CLN2, CLN3, CLN5, CLN8, CTSD, CLN10, ADSL, SYN1, Solute carrier family 2, facilitated glucose transporter member 1, DNA polymerase subunit gamma-1, EF-hand domain-containing protein 1, Voltage-dependent L-type calcium channel subunit beta-4, Gamma-aminobutyric acid receptor subunit alpha-1, Laforin, NHL repeat-containing protein 1, malin, Cystatin-B, Prickle-like protein 1, Neuronal acetylcholine receptor alpha-4, Neuronal acetylcholine receptor beta-2, Neuronal acetylcholine receptor alpha-2, Leucine-rich glioma-inactivated protein 1, Palmitoyl-protein thioesterase 1, Tripeptidyl-peptidase 1, Battenin, Ceroid-lipofuscinosis neuronal protein 5, Ceroid-lipofuscinosis neuronal protein 8, Cathepsin D, Adenylosuccinate lyase, Synapsin-1, GLUT1 deficiency, Alpers syndrome, JME, juvenile myoclonic epilepsy, seizures, progressive myoclonic epilepsy, Lafora disease, Unverricht-Lundborg disease, nocturnal frontal lobe epilepsy, ADNFLE, PPT1 deficiency, TPP1 deficiency, Juvenile NCL, Finnish late-infantile NCL, POLG-related Disorders, Autosomal Dominant Focal Epilepsies, Neuronal Ceroid Lipofuscinoses, NCL, Adenosuccinate lyase deficiency, , seizures
2007533 Progressive Myoclonic Epilepsy Panel, Sequence Analysis and Exon-Level Deletion/Duplication, 12 Genes Additional Technical Information Epilepsy PROG EPIL, seizures, PME, myoclonus, Lafora, Unverricht-Lundborg, neuronal ceroid lipofuscinoses, NCL, PRICKLE1, EPM2A, EPM2B, NHLRC1, CSTB, PPT1, CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10, TPP1, MFSD8, CTSD
2006069 Febrile Seizures Panel Epilepsy FEBRIL PAN
2005896 SCN1A-Related Seizure Disorders (SCN1A), Sequencing and Deletion/Duplication Epilepsy SCN1A COM
2005898 Protocadherin 19 (PCDH19) Sequencing Epilepsy PCDH19, seizures
2005898 Protocadherin 19 (PCDH19) Sequencing Epileptic Encephalopathy, Early Infantile, 9 (EIEE9) PCDH19, seizures
2006332 Exome Sequencing with Symptom-Guided Analysis Exome EXOME SEQ
2006336 Exome Sequencing Symptom-Guided Analysis, Patient Only Exome EXOSEQ PRO
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
2004920 Familial Adenomatous Polyposis (APC) Deletion and Duplication Familial Adenomatous Polyposis APC DELDUP, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer
2004911 MUTYH-Associated Polyposis (MUTYH) 2 Mutations Familial Adenomatous Polyposis MYH SEQ, Hereditary Colorectal Cancer, MAP, MUTH Associated Polyposis
2006191 MUTYH-Associated Polyposis (MUTYH) Sequencing Familial Adenomatous Polyposis MUTYH, FGS, MYH
2006307 MUTYH-Associated Polyposis (MUTYH) 2 Mutations with Reflex to Sequencing Familial Adenomatous Polyposis MUTYH RFLX MYH
0051463 Dysautonomia, Familial (IKBKAP) 2 Mutations Familial Dysautonomia IKBKAP, Jewish Genetic Disease
0051464 Dysautonomia, Familial (IKBKAP) 2 Mutations, Fetal Familial Dysautonomia IKBKAP FE, Jewish, Ashkenazi, prenatal, amnio, amniotic fluid, CVS, chorionic villi
2002658 Familial Mediterranean Fever (MEFV) Sequencing Familial Mediterranean Fever (MEFV) FMF FGS, DNA
2001961 Familial Mutation, Targeted Sequencing

The following genes are available:
ACADVL, ACADM, APC, BTD, CFTR, CYP1B1, F8, F9, FBN1, GALT, GJB2, GP1BA, HBA1, HBA2, HBB, LMNA, MECP2, MEFV, MEN1, MLH1, MSH2, MSH6, MUTYH, NF1, OTC, PMS2, PRSS1, PTEN, PTPN11, RET, SDHB, SDHC, SDHD, SLC25A13, SPRED1, SOS1, TGFBR1, TGFBR2, UBE3A, VHL, VWF, ACVRL1, ASS1, BMPR1A, BMPR2, CCM1, CCM2, CCM3, CDKL5, COL4A5, ENG, G6PD, INSR, MYH3, PLOD1, RASA1, SLC22A5, SMAD4, SPINK1

 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
0051468 Fanconi Anemia Group C, FANCC Gene Mutations (322delG, IVS4(+4)A>T) Fanconi Anemia Group C FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA
0051469 Fanconi Anemia Group C, FANCC Gene Mutations, Fetal Fanconi Anemia Group C FANCC FE, Jewish, Ashkenazi, DNA, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells, Fanconi's, Fanconis
2006069 Febrile Seizures Panel Febrile Seizures FEBRIL PAN
2005896 SCN1A-Related Seizure Disorders (SCN1A), Sequencing and Deletion/Duplication Febrile Seizures SCN1A COM
0051752 FG Syndrome, FGS1 (MED12) R961W Mutation FG Syndrome FGS 1, Opitz-Kaveggia, Mental retardatio, developmental delay, macrocephaly, imperforate anus
0081150 Maternal Serum Screen, First Trimester First-Trimester Screening MS FT, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, hCG
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
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
2002299 Chromosome FISH, Metaphase—15q11.2-13 duplication (15q11.2-13) FISH (Constitutional)—Individual Metaphase Probes D15S11, D15S10
2002299 Chromosome FISH, Metaphase—1p36 deletion (1p36) FISH (Constitutional)—Individual Metaphase Probes CEB108-T7-CDC2LC (p58)
2002299 Chromosome FISH, Metaphase—Angelman syndrome (15q11.2-13) FISH (Constitutional)—Individual Metaphase Probes AS; 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—X centromere FISH (Constitutional)—Individual Metaphase Probes
2002299 Chromosome FISH, Metaphase—Y centromere FISH (Constitutional)—Individual Metaphase Probes
2002299 Chromosome FISH, Metaphase—Yq12 FISH (Constitutional)—Individual Metaphase Probes
2002299 Chromosome FISH, Metaphase—X centromere FISH (Constitutional)—Individual Interphase Probes
2002299 Chromosome FISH, Metaphase—Y centromere FISH (Constitutional)—Individual Interphase Probes
2001946 Fragile X (FMR1) Screen with Reflex to Fragile X (FMR1) Diagnostic Fragile X FRAG X SCR, Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia
0040011 Fragile X (FMR1) Diagnostic Fragile X FRAG X, Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia
0050543 Fragile X Syndrome, Fetal Fragile X FRAG X 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
2002662 Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17 Freeman-Sheldon Syndrome (MYH3) FSS SEQ, Distal Arthrogryposis Type 2A, Congenital contractures
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) Additional Technical Information G6PD Deficiency G6PD AFRIC, Hemolytic Anemias
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
0080125 Galactose-1-Phosphate Uridyltransferase, Whole Blood Galactosemia G1PUT 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 Galactosemia GALT FGA, Galactosemia
0051270 Galactosemia, (GALT ) 9 Mutations, Fetal Galactosemia GALTDNA FE, Galactosemia
0051438 Gaucher Disease (GBA) 8 Mutations Gaucher Disease GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase
0051439 Gaucher Disease (GBA) 8 Mutations, Fetal Gaucher Disease GBA FE, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase deficiency
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
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
2002366 Cytogenomic SNP Microarray—Fetal Genomic Microarray ARRAY FE, array, CGH, aCGH, CNV, ultrasound anomalies, birth defects, amnio, amniotic fluid, CVS, villi, cultured cells
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
2005633 Genomic SNP Microarray, Products of Conception Genomic Microarray ARRAY POC, conception, amnio, amniotic fluid, CVS, villi, cultured cells
2004434 X Chromosome Ultra-High Density Microarray, 954 Genes Genomic Microarray X ARRAY, Neurocognitive Impairments, X-linked, mental retardation, pervasive developmental delay, seizures, x chromosome, MR, ID, DD, autism, ASD, PDD
2002301 Microarray Family Study by FISH

Used to determine the presence of a known deletion or duplication, previously identified by microarray in a family member. If the original array was not performed at ARUP, contact an ARUP genetic counselor prior to sending the sample.

 		Please call a genetic counselor before ordering. Genomic Microarray (FISH) ARRAY FAM, Array, CGH, aCGH, parental
0051476 Glaucoma (Primary Congenital), CYP1B1 Sequencing Glaucoma, Primary Congenital (CYP1B1) CYP1B1, Cytochrome P4501B1
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
0040116 Haptoglobin (HP) Genotyping Haptoglobin HAPTO PCR, Diabetes Mellitus, Cardiovascular risk
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
0051383 Hearing Loss, Nonsyndromic, Connexin 26 (GJB2) 35delG Mutation Hearing Loss CX 35DELG
2002044 Hearing Loss, Nonsyndromic Mitochondrial DNA 2 Mutations Hearing Loss HL MTDNA, m.1555A>G, m.7445A>G
2001956 Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions Hearing Loss GJB6 DEL, Hearing Loss
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
0051495 Alpha Thalassemia (HBA1 & HBA2) 7 Deletions Hemoglobinopathies ALPHA THAL, Hemoglobinopathies
2001582 Alpha Globin (HBA1 and HBA2) Sequencing Hemoglobinopathies AG FGS, Hemoglobinopathies
0051421 Beta Globin (HBB) HbS, HbC, HbE Detection Hemoglobinopathies HB SCE, Sickle cell
0050578 Beta Globin (HBB) Sequencing Hemoglobinopathies BGSEQ, Thalassemias, Hemoglobinopathies
0051422 Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Hemoglobinopathies HB SCE FE
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
2005408 Hereditary Persistence of Fetal Hemoglobin (HPFH) 8 Mutations Hemoglobinopathies HPFH
0050610 Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility Hemoglobinopathies
0050520 Hemoglobin S, Evaluation with Reflex to RBC Solubility Hemoglobinopathies SCKL
2005757 Carboxyhemoglobin Quantitation, Whole Blood by Co-Oximetry Hemoglobinopathies CARBOXY HB
0049090 Heinz Body Stain Hemoglobinopathies Unstable Hemoglobinopathies, Hemolytic Anemias
0049020 Hemoglobin, Unstable Hemoglobinopathies HGB UNSTAB
2002984 Oxygen Dissociation (P50) by Hemoximetry Hemoglobinopathies HEMOX
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
2001751 Hemophilia A (F8) Deletion/Duplication Hemophilia A F8 DELDUP, 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
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
2001751 Hemophilia A (F8) Deletion/Duplication Hemophilias F8 DELDUP, 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
0055656 Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C) Hereditary Hemochromatosis HFE PCR, HFE-associated hemochromatosis, HFE-HHC, iron overload
0051382 ACVRL1 and ENG Sequencing and Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) HHT FGA, hereditary hemorrhagic telangiectasia
0051348 ACVRL1 and ENG Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) HHT DELDUP, 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
2001976 Juvenile Polyposis (SMAD4) Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) SMAD4 DD, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
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 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 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 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 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
2002499 MLH1 Promoter Methylation, Paraffin Hereditary Non-Polyposis Colon Cancer (HNPCC) MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers
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
2007167 Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Hereditary Paraganglioma-Pheochromocytoma Syndromes
2006948 SDHB with Interpretation by Immunohistochemistry Hereditary Paraganglioma-Pheochromocytoma Syndromes
2007108 Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication Hereditary Paraganglioma-Pheochromocytoma Syndromes
2007117 Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication Hereditary Paraganglioma-Pheochromocytoma Syndromes
2007122 Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication Hereditary Paraganglioma-Pheochromocytoma Syndromes
2007113 Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication Hereditary Paraganglioma-Pheochromocytoma Syndromes
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
0050392 Ankylosing Spondylitis (HLA-B27) Genotyping HLA-B27 (Ankylosing Spondylitis) Genotyping HLAB27 PCR, IBD
0080413 Homocystine, Quantitative, Urine Homocystine HOMOCY-QNT Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Homocystinuria, Cystathionine Beta-Synthase Deficiency CBS Cystathionine beta-synthase
0040018 Huntington Disease (HD) Mutation with Reflex to Southern Blot Huntington Disease HD, Huntington chorea, CAG trinucleotide repeats, HTT
2006265 Hypertrophic Cardiomyopathy (HCM) Panel, 18 Genes Hypertrophic Cardiomyopathy HCM PAN, Amyloid Cardiomyopathy, Transthyretin-Related, Amyloid Polyneuropathy, Amyloidosis, Danon Disease, Fabry, Hypertrophic
0051367 Hypochondroplasia (FGFR3) 2 Mutations Hypochondroplasia HYPOCH, Skeletal Dysplasias, N540K, c.1620C>A, c.1620C>G
2007883 Filaggrin (FLG) 2 Mutations Ichthyosis Vulgaris FLG, ichthyosis vulgaris, keratosis pilaris, atopic disease, atopic dermatitis, eczema, asthma, profilaggrin, c.1501C>T, R501X, c.2282del4
0080860 Insulin Binding, Fibroblasts Insulin Binding INSULFIBRO
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
2006344 Inosine Triphosphate (ITPA) and Interleukin 28 B (IL28B)-Associated Variants, 4 SNPs Additional Technical Information Interleukin 28 B Associated SNP—Genotyping ITPA-IL28B
2004680 Interleukin 28 B (IL28B)—Associated Variants, 2SNPs Interleukin 28 B Associated SNP—Genotyping IL28B, Hepatitis C Virus (HCV), peginterferon, interferon, PEG-IFNα
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
2001976 Juvenile Polyposis (SMAD4) Deletion/Duplication Juvenile Polyposis SMAD4 DD, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
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
2004984 Juvenile Polyposis (BMPR1A) Deletion/Duplication Juvenile Polyposis BMPR1A DD, JPS, SMAD4, Juvenile Polyposis
0051644 Kell Antigen Genotyping (KEL1/KEL2) Kell Antigen Genotyping KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
2002945 Legius Syndrome (SPRED1) Sequencing and (NF1) Sequencing Exon 22 (Exon 17) Legius Syndrome LS FGS, Neurofibromatosis, LS, NF 1-like
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
2002701 Loeys-Dietz Syndrome (TGFBR1 & TGFBR2) Sequencing & Deletion/Duplication Loeys-Dietz Syndrome LDS FGA, Loeys-Dietz, aortic aneurysm
2002705 TGFBR1 & TGFBR2 Sequencing Loeys-Dietz Syndrome LDS FGS, Loeys-Dietz, aortic aneurysm
2002697 TGFBR1 & TGFBR2 Deletion/Duplication Loeys-Dietz Syndrome LDS DELDUP, Loeys-Dietz, aortic aneurysm
2006232 Long QT Syndrome (LQTS) Panel, 12 Genes Long QT Syndrome LQTS PANEL
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 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 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 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 Lynch Syndrome HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome
2002499 MLH1 Promoter Methylation, Paraffin Lynch Syndrome MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers
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
0049302 Mismatch Repair by Immunohistochemistry 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 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 Lynch Syndrome MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
0051674 Macular Degeneration, Age-Related, DNA Variants Macular Degeneration AMD, CHF, ARMS2, Y402H, A69S
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
2005580 Marfan Syndrome (FBN1) Deletion/Duplication Marfan Syndrome and Marfan/FBN1-Related Disorders FBN1 DD
0081150 Maternal Serum Screen, First Trimester Maternal Serum Screening MS FT, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, hCG
0081293 Maternal Screening, Sequential, Specimen #1 Maternal Serum Screening MS SEQ-1, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester
0081294 Maternal Screening, Sequential, Specimen #2 Maternal Serum Screening MS SEQ-2, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
0081062 Maternal Serum Screening, Integrated, Specimen #1 Maternal Serum Screening MS INT-1, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester
0081064 Maternal Serum Screening, Integrated, Specimen #2 Maternal Serum Screening MS INT-2, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
0080269 Quad Screen Alpha Fetoprotein, hCG, Estriol, and Inhibin A Maternal Serum Screening AFP MS4, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
0080434 Maternal Serum Screen, Alpha Fetoprotein (Only) Maternal Serum Screening MS ONLY, Prenatal Screening, NTD, neural tube defects, second trimester
0080108 Triple Screen Alpha Fetoprotein, hCG, and Estriol Maternal Serum Screening AFP MS3, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
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 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 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 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 Microsatellite Instability (MSI) MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
2006054 Mitochondrial Disorders Panel (mtDNA and 108 Nuclear Genes) Sequencing and Deletion/Duplication Mitochondrial Disorders MT PANEL, Mitochondrial, mitochondria, heteroplasmy, mtDNA
2006872 Mitochondrial Disorders (mtDNA) Sequencing and Deletion/Duplication Mitochondrial Disorders MT SEQDD, Mitochondrial, mitochondria, mtDNA
2006878 Mitochondrial Disorders (108 Nuclear Genes) Sequencing and Deletion/Duplication Mitochondrial Disorders MT N SQDD, , Mitochondrial, mitochondria, heteroplasmy, mtDNA
2006065 Mitochondrial Disorders (mtDNA) Sequencing Mitochondrial Disorders MT SEQ, Mitochondrial, mitochondria, mtDNA
2006050 Mitochondrial Disorders (108 Nuclear Genes) Sequencing Mitochondrial Disorders MT N SQ, Mitochondrial, mitochondria, heteroplasmy, mtDNA
2006061 Mitochondrial Genome (mtDNA and 108 Nuclear Genes) Deletion/Duplication Mitochondrial Disorders MT DD, Mitochondrial, mitochondria, heteroplasmy, mtDNA
0051755 Molar Pregnancy, 16 DNA Markers Molar Pregnancy MOL PREG, Gestational Trophoblastic Disease
0051448 Mucolipidosis IV (MCOLN1) 2 Mutations Mucolipidosis IV MCOLN1, Jewish Genetic, lysosomal
0051449 Mucolipidosis IV (MCOLN1) 2 Mutations, Fetal Mucolipidosis IV MCOL FE, 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
2007496 Mucopolysaccharidosis Type 1, NRE (Sensi-Pro) Quantitative, Serum or Plasma Mucopolysaccharidoses (MPS) Mucopolysaccharidosis Type I, Alpha-L-Iduronidase, IDUA, MPS I, Hurler, Hurler-Scheie, Scheie, Alpha-L-iduronidase, MPSI, MPSI NRE S
2007493 Mucopolysaccharidosis Type 1, NRE (Sensi-Pro) Quantitative, Urine Mucopolysaccharidoses (MPS) Mucopolysaccharidosis Type I, Alpha-L-Iduronidase, IDUA, MPS I, Hurler, Hurler-Scheie, Scheie, Alpha-L-iduronidase, MPSI, MPSI NRE S
2007599 Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro) Quantitative, Serum or Plasma Mucopolysaccharidoses (MPS) Mucopolysaccharidosis Type I, Alpha-L-Iduronidase, IDUA, MPS I, Hurler, Hurler-Scheie, Scheie, Alpha-L-iduronidase, MPSI, MPSI NRE S
2007488 Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro) Quantitative, Urine Mucopolysaccharidoses (MPS) Mucopolysaccharidosis Type I, Alpha-L-Iduronidase, IDUA, MPS I, Hurler, Hurler-Scheie, Scheie, Alpha-L-iduronidase, MPSI, MPSI NRE S
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)
2005346 Multiple Endocrine Neoplasia Type 1 (MEN1) Deletion/Duplication Multiple Endocrine Neoplasia Type 1 (MEN1) Multiple endocrine adenomatosis, Wermer, 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
0051492 Multiple Endocrine Neoplasia Type 2B (MEN2B), RET Gene M918T and A883F Mutations Multiple Endocrine Neoplasia Type 2 (MEN2) MEN 2 B, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene
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 Neurofibromatosis Type 1
0051458 Niemann-Pick, Type A (SMPD1) 4 Mutations Niemann-Pick Disease Type A SMPD1, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del
0051459 Niemann-Pick, Type A (SMPD1) 4 Mutations, Fetal Niemann-Pick Disease Type A SMPD1 FE, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del
2007537 Non-Invasive Prenatal Testing for Fetal Aneuploidy Non-Invasive Prenatal Testing (Cell-Free DNA) NIPT ANEU, Panorama, NIPD, Natera, Ariosa, Sequenom, Harmony, Verinata, Maternity 21, MaterniT21, Verifi, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome
2004189 Noonan Syndrome PTPN11 Sequencing with Reflex to SOS1 Sequencing Noonan Syndrome NS REFLEX, Neurocognitive Impairments, NS, Leopard, Noonan-like/multiple giant-cell lesion
0051805 Noonan Syndrome (PTPN11) Sequencing Noonan Syndrome PTPN11 FGS, Neurocognitive Impairments, NS, SOS1, Leopard, Noonan-like/multiple giant-cell lesion, Metachondromatosis
2004195 Noonan Syndrome (SOS1) Sequencing Noonan Syndrome SOS1 FGS, Neurocognitive Impairments, NS, PTPN11, Leopard, Noonan-like/multiple giant-cell lesion
2005656 Ogden Syndrome (NAA10) Sequencing Exon 2 Ogden Syndrome NAA10 SEQ
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
2002384 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
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 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-RARA Translocation by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels FISH PML, Acute Myeloid Leukemia (AML), Acute Promyelocytic Leukemia (APL), Tumor Markers
2002298 Chromosome FISH, Interphase—ALK; 2p23 Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Anaplastic large cell lymphoma
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
2002461 Pancreatobiliary FISH Oncology Studies, FISH—Other PF, Pancreatic Cancer, Tumor Markers
8100600 UroVysion™ FISH Oncology Studies, FISH—Other UF, Bladder Cancer, Tumor Markers, urine
0049360 1p/19q Deletion by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block 1p19q, Oncology, Paraffin, Brain Tumors, Tumor
0049234 EGFR by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block EGFRFISH, Head and Neck Cancer, Lung Cancer, Brain Tumors
0049218 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
2001497 FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH Oncology Studies, FISH—Paraffin Block FKHRFISH, Sarcoma, FOX, FOXO1, 13q14, alveolar rhabdomyosarcoma
2001536 IGH-BCL2 Fusion, t(14;18) by FISH for Detection in Follicular Lymphoma Oncology Studies, FISH—Paraffin Block B-Cell Lymphomas, Follicular lymphoma, Diffuse large B-cell lymphoma, FISH
2007226 IGH-CCND1 Fusion, t(11;14) by FISH Oncology Studies, FISH—Paraffin Block Mantle cell lymphoma, B-Cell Lymphomas, Plasma cell dyscrasias, Tumor Markers
2001538 IGH-MYC Fusion t(8;14) by FISH for Detection in Burkitt Lymphoma Additional Technical Information Oncology Studies, FISH—Paraffin Block Burkitt lymphoma, B-Cell Lymphomas
2003016 MDM2 Gene Amplification by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block MDM2 FISH, Sarcoma, Tumor Markers, MDM2, Murine Double Minute 2
2002345 MYC (8q24) Gene Rearrangement by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block Burkitt lymphomas, B-Cell Lymphomas, Double Hit lymphomas, Tumor Markers
2007227 MYCN (N-MYC) Gene Amplification by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block NMYC, Neuroblastoma, Tumor Markers
0040114 SYT-SSX t(X;18) Translocations by RT-PCR Additional Technical Information Oncology Studies, FISH—Paraffin Block SYTFISH, Sarcoma, Tumor Markers, Synovial Sarcoma
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
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
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
2004892 Ornithine Transcarbamylase Deficiency (OTC) Deletion/Duplication Ornithine Transcarbamylase Deficiency OTC DELDUP, Urea cycle
0092458 Orotic Acid and Orotidine, 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
2002005 Pancreatitis, Idiopathic (CFTR, PRSS1, SPINK1) Sequencing Pancreatitis IP SEQ PAN, Idiopathic pancreatitis, acute pancreatitis, R122H, N29I, N34S, hereditary pancreatitis, PRSS1 FGS, CFTR, SPINK1, Idiopathic pancreatitis, acute pancreatitis, PSTI, pancreatic secretory trypsin inhibitor
2002016 Pancreatitis, Hereditary (PRSS1) Sequencing Pancreatitis PRSS1 FGS, Idiopathic pancreatitis, acute pancreatitis, R122H, N29I
2002012 Pancreatitis, Idiopathic (SPINK1) Sequencing Pancreatitis SPINK1 FGS, Idiopathic pancreatitis, acute pancreatitis, N34S, PSTI, pancreatic secretory trypsin inhibitor
2007370 Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication, 7 Genes Periodic Fever Syndromes 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
2007376 Periodic Fever Syndromes Sequencing, 7 Genes Periodic Fever Syndromes 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
2007366 Periodic Fever Syndromes Deletion/Duplication, 7 Genes Periodic Fever Syndromes 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
2002658 Familial Mediterranean Fever (MEFV) Sequencing Periodic Fever Syndromes FMF FGS, DNA
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
2008103 Pipecolic Acid, CSF Pipecolic Acid PIPECOL CF, 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
0051308 Platelet Antigen Genotyping Panel Platelet Antigen Genotyping HPA PAN, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051309 Platelet Antigen 1 Genotyping (HPA-1) Platelet Antigen Genotyping HPA1, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051310 Platelet Antigen 2 Genotyping (HPA-2) Platelet Antigen Genotyping HPA2, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051311 Platelet Antigen 3 Genotyping (HPA-3) Platelet Antigen Genotyping HPA3, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051490 Platelet Antigen 4 Genotyping (HPA-4) Platelet Antigen Genotyping HPA4, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051312 Platelet Antigen 5 Genotyping (HPA-5) Platelet Antigen Genotyping HPA5, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051313 Platelet Antigen 6 Genotyping (HPA-6) Platelet Antigen Genotyping HPA6, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051314 Platelet Antigen 15 Genotyping (HPA-15) Platelet Antigen Genotyping HPA15, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
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
0056060 Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II) Prothrombin (Factor II) PT PCR, F2, G20210A, thrombosis, plasma prothrombin, thrombophilia, clotting
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
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
2002726 PTEN-Related Disorders Deletion/Duplication PTEN-Related Disorders PTENDELDUP, 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, BMPR2-Related BMPR2 FGA, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
2003410 Pulmonary Arterial Hypertension (BMPR2) Sequencing Pulmonary Arterial Hypertension, BMPR2-Related BMPR2 FGS, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
2003401 Pulmonary Arterial Hypertension (BMPR2) Deletion/Duplication Pulmonary Arterial Hypertension, BMPR2-Related BMPR2 DD, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
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
2007830 RASA1-Related Disorders (RASA1) Deletion/Duplication RASA1-Related Disorders RASA1 DD, RASA1, CM-AVM, Parkes Weber
2007085 Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes Retinitis Pigmentosa/Leber Congenital Amaurosis RP, 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 ,NR2RR3 ,NRL ,PDE6A ,PDE6B ,PRCD ,PROM1 ,PRPF3 ,PRPF31 ,PRPF8 ,RD3 ,RDH12 ,RDS ,RGR ,RHO ,RLBP1 ,ROM1 ,RP1 ,RP2 ,RP9 ,RPE65 ,RPGR ,RPGRIP1 ,SAG ,SEMA4A ,SNPNP200 ,SPATA7 ,TOPORS ,TTC8 ,TULP1 ,USH2A
2007091 Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing, 53 Genes Retinitis Pigmentosa/Leber Congenital Amaurosis RP, 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 ,NR2RR3 ,NRL ,PDE6A ,PDE6B ,PRCD ,PROM1 ,PRPF3 ,PRPF31 ,PRPF8 ,RD3 ,RDH12 ,RDS ,RGR ,RHO ,RLBP1 ,ROM1 ,RP1 ,RP2 ,RP9 ,RPE65 ,RPGR ,RPGRIP1 ,SAG ,SEMA4A ,SNPNP200 ,SPATA7 ,TOPORS ,TTC8 ,TULP1 ,USH2A
2007095 Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Deletion/Duplication, 53 Genes Retinitis Pigmentosa/Leber Congenital Amaurosis RP, 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 ,NR2RR3 ,NRL ,PDE6A ,PDE6B ,PRCD ,PROM1 ,PRPF3 ,PRPF31 ,PRPF8 ,RD3 ,RDH12 ,RDS ,RGR ,RHO ,RLBP1 ,ROM1 ,RP1 ,RP2 ,RP9 ,RPE65 ,RPGR ,RPGRIP1 ,SAG ,SEMA4A ,SNPNP200 ,SPATA7 ,TOPORS ,TTC8 ,TULP1 ,USH2A
0051614 Rett Syndrome (MECP2), Full Gene Analysis Rett Syndrome RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
0051378 Rett Syndrome (MECP2), Full Gene Sequencing Rett Syndrome RETT FGS, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
0051618 Rett Syndrome (MECP2), Deletion/Duplication Rett Syndrome RETTDELDUP, 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
0050421 RhCc Antigen (RHCE) Genotyping Rh Genotyping RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
0050423 RhEe Antigen (RHCE) 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
0080269 Quad Screen Alpha Fetoprotein, hCG, Estriol, and Inhibin A Second-Trimester Screening AFP MS4, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
0080434 Maternal Serum Screen, Alpha Fetoprotein (Only) Second-Trimester Screening MS ONLY, Prenatal Screening, NTD, neural tube defects, second trimester
0080108 Triple Screen Alpha Fetoprotein, hCG, and Estriol Second-Trimester Screening AFP MS3, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
2006242 Short QT Syndrome Panel, 3 Genes Short QT Syndrome SQTS PANEL
0051421 Beta Globin (HBB) HbS, HbC, HbE Detection Sickle Cell Anemia HB SCE, Sickle cell
0051422 Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Sickle Cell Anemia HB SCE FE
0050520 Hemoglobin S, Evaluation with Reflex to RBC Solubility Sickle Cell Anemia SCKL
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
0051428 Tay-Sachs (HEXA) 7 Mutations 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
0051429 Tay-Sachs (HEXA) 7 Mutations, Fetal Tay-Sachs Disease HEXA FE, 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
2002573 TPMT Genotype Thiopurine Methyltransferase TPMT GENO, Thiopurine Methyltransferase Activity (TPMT), Pharmacogenetics (PGx), Immunosuppressive Drugs, Rheumatoid Arthritis (RA), Inflammatory Bowel Disease (IBD)
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 (monitoring only) Tyrosine TYRO, Tyrosinemia
0051332 UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping UGT1A1 Genotyping UGT1A1, Irinotecan, Pharmacogenetics (PGx), Colorectal Cancer
2007384 Vascular Malformations Panel, Sequencing and Deletion/Duplication, 10 Genes 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
2007390 Vascular Malformations Sequencing, 10 Genes Vascular Malformation Syndromes 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 Vascular Malformation Syndromes 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
0051382 ACVRL1 and ENG Sequencing and Deletion/Duplication Vascular Malformation Syndromes HHT FGA, hereditary hemorrhagic telangiectasia
0051348 ACVRL1 and ENG Deletion/Duplication Vascular Malformation Syndromes HHT DELDUP, hereditary hemorrhagic telangiectasia
0051381 ACVRL1 and ENG Sequencing Vascular Malformation Syndromes HHT-FGS, hereditary hemorrhagic telangiectasia
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
2007830 RASA1-Related Disorders (RASA1) Deletion/Duplication Vascular Malformation Syndromes RASA1 DD, RASA1, CM-AVM, Parkes Weber
2003152 CCM1 Sequencing Vascular Malformation Syndromes CCM1 FGS, Cerebral Cavernous Malformation
2003156 CCM2 Sequencing Vascular Malformation Syndromes CCM2 FGS, Cerebral Cavernous Malformation
2003160 CCM3 Sequencing Vascular Malformation Syndromes CCM3 FGS, Cerebral Cavernous Malformation
2003172 CCM1, CCM2, and CCM3 Deletion/Duplication Vascular Malformation Syndromes CCM DELDUP, Cerebral Cavernous Malformation
2003164 Cerebral Cavernous Malformation (CCM1) Sequencing with Reflex to (CCM1, CCM2 and CCM3) Deletion/Duplication with Reflex to (CCM2) Sequencing with Reflex to (CCM3) Sequencing Vascular Malformation Syndromes CCM COMP, Cerebral Cavernous Malformation
—see Cerebral Cavernous Malformation (CCM) Vascular Malformation Syndromes
—see Hereditary Hemorrhagic Telangiectasia (HHT) Vascular Malformation Syndromes
—see RASA1-Related Disorders Vascular Malformation Syndromes
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 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) VLCAD FGS
2004208 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Deletion/Duplication Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) VLCAD DD
2004250 Very Long-Chain and Branched-Chain Fatty Acids Profile VLCFA 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
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
2002988 Von Hippel-Lindau (VHL) Deletion/Duplication Von Hippel-Lindau/Congenital Polycythemia VHL DELDUP, Brain Tumors, Pheochromocytoma
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
2004358 Warfarin Genotyping Plus Warfarin Genotyping WARF PLUS
0051370 Warfarin Sensitivity (CYP2C9 & VKORC1 ) 3 Mutations Warfarin Genotyping WARF GENO, Warfarin metabolism, Coumadin, Pharmacogenetics (PGx), cytochrome P450 2C9, CYP2C9*2, CYP2C9*3, c.-1639G>A
2006352 X-Chromosome Inactivation Analysis Additional Technical Information X-Chromosome Inactivation XCI
2001778 Y Chromosome Microdeletion Y Chromosome Microdeletion Y CHROM, Male Infertility, PCR