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Test #Test NameAdditional Information
5 Fluorouracil Sensitivity
2012166Dihydropyrimidine Dehydrogenase (DPYD) Genotyping, 3 Mutations 
Achondroplasia
0051266Achondroplasia (FGFR3) 2 Mutations
0051265Achondroplasia Mutation, Fetal 
Acylcarnitine
0081110Carnitine Panel 
0040033Acylcarnitine Quantitative Profile, Plasma 
Acylglycine
0081170Acylglycine, Quantitative, Urine 
Alpha Fetoprotein, Aminotic Fluid
3000142Alpha Fetoprotein (Amniotic Fluid) with Reflex to Acetylcholinesterase and Fetal Hemoglobin 
Alpha Thalassemia
3003651Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring
2011622Alpha Globin (HBA1 and HBA2) Deletion/Duplication
2011708Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication
3003656Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring, Fetal
Alpha-1-Antitrypsin
0051256Alpha-1-Antitrypsin & A1A Genotype with Reflex to Phenotype
Alport Syndrome
3002685Alport Syndrome Panel, Sequencing and Deletion/Duplication
Alzheimer's Disease
3001585Early-Onset Alzheimer's Panel, Sequencing 
2013341Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk
Amino Acids
2009389Amino Acids Quantitative by LC-MS/MS, Plasma 
2009419Amino Acids Quantitative by LC-MS/MS, Urine 
0080137Amino Acids Quantitative, CSF 
Angelman Syndrome
3006247Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPA
2002299Chromosome FISH, Metaphase—Angelman syndrome (15q11.2-13) 
Aortopathies
2006540Aortopathy Panel, Sequencing and Deletion/Duplication
3003947Loeys-Dietz Syndrome Core Panel, Sequencing
3004102Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication
2013341Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk
2013337Apolipoprotein E (APOE) Genotyping, Cardiovascular Risk 
Arthrogryposis
3003917Distal Arthrogryposis Panel, Sequencing 
Ashkenazi Jewish Panel (16 disorders)
0051415Ashkenazi Jewish Diseases, 16 Genes 
2013725ABCC8-Related Hyperinsulinism, 3 Variants 
0051433Bloom Syndrome (BLM),1 Variant
0051453Canavan Disease (ASPA), 4 Variants
3005882Dysautonomia, Familial (ELP1), 2 Variants 
0051468Fanconi Anemia Group C, (FANCC), 2 Variants
0051438Gaucher Disease (GBA), 8 Variants 
2013740Glycogen Storage Disease, Type 1A (G6PC), 9 Variants 
2013909Joubert Syndrome Type 2 (TMEM216), 1 Variant 
2013735Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants 
2013730Maple Syrup Urine Disease, Type 1B (BCKDHB), 3 Variants 
0051448Mucolipidosis Type IV (MCOLN1), 2 Variants
2013745NEB-Related Nemaline Myopathy, 1 Variant 
0051458Niemann-Pick, Type A (SMPD1), 4 Variants
0051428Tay-Sachs Disease (HEXA), 7 Variants
2013750Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants 
Autism
2014314Autism and Intellectual Disability Comprehensive Panel
2003414Cytogenomic SNP Microarray
2006267Cytogenomic SNP Microarray Buccal Swab
2014312Autism and Intellectual Disability Metabolic Panel
Beckwith-Wiedemann
3001635Beckwith-Wiedemann Syndrome (BWS) and Russell-Silver Syndrome (RSS) by Methylation-Specific MLPA 
Beta Globin
3004547Beta Globin (HBB) Gene Sequencing
3004550Beta Globin (HBB) Sequencing, Fetal 
3003144Deletion/Duplication Analysis by MLPA 
Biotinidase
0093362Biotinidase, Serum (with paired normal control)
Biotinidase Deficiency
3004424Biotinidase Deficiency (BTD) Sequencing
Birt-Hogg-Dubé Syndrome
3005703Birt-Hogg-Dubé Syndrome (FLCN) Sequencing and Deletion/Duplication 
Blood Genotyping
0051368Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) 
3016640RhD Gene (RHD) Copy Number, Fetal 
3002002RhC/c (RHCE) Antigen Genotyping 
3016679RhC/c (RHCE) Antigen Genotyping, Fetal 
3002003RhE/e (RHCE) Antigen Genotyping 
3016682RhE/e (RHCE) Antigen Genotyping, Fetal 
3002001Kell K/k Antigen (KEL) Genotyping 
3016676Kell K/k (KEL) Antigen Genotyping, Fetal 
3001053Red Blood Cell Antigen Genotyping 
3016639Red Blood Cell Antigen Genotyping, Fetal 
Bone Marrow Failure
3001615Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication 
Breast Cancer
3005654Hereditary Breast Cancer High-Risk Panel, Sequencing and Deletion/Duplication 
3005632Hereditary Breast Cancer Guidelines-Based Panel, Sequencing and Deletion/Duplication 
2012026Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication 
3001855BRCA1 and BRCA2-Associated HBOC Syndrome Panel, Sequencing and Deletion/Duplication 
2012032Hereditary Cancer Panel, Sequencing and Deletion/Duplication 
CADASIL
3004383Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL
Capillary Malformation-Arteriovenous Malformation (CM-AVM)
3003634Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/Duplication
3003144Deletion/Duplication Analysis by MLPA 
Cardiomyopathy
2010183Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication
3001579Hypertrophic Cardiomyopathy Panel, Sequencing
3001581Dilated Cardiomyopathy Panel, Sequencing
3001603Long QT Panel, Sequencing and Deletion/Duplication
Carnitine
0081110Carnitine Panel 
0080068Carnitine, Free and Total, Plasma 
0081308Carnitine, Free and Total, Urine 
3006178Isobutyryl/butyryl-carnitine (C4) Quantitative, Urine 
Carrier Screening Panels
0051415Ashkenazi Jewish Diseases, 16 Genes 
3000258Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation 
2014680Expanded Carrier Screen by Next Generation Sequencing 
2014677Expanded Carrier Screen by Next Generation Sequencing with Fragile X 
Celiac Disease
3004445Celiac Disease HLA-DQ Genotyping
Central Nervous System Cancer
3001633Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/Duplication 
Cerebral Cavernous Malformation
3002286Cerebral Cavernous Malformation Panel, Sequencing and Deletion/Duplication 
Charcot-Marie-Tooth Disease
2012160Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication
2012155Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/ Duplication with Reflex to Sequencing Panel 
Chimerism
3005449Chimerism, Pretransplant 
3005462Chimerism, Donor 
3005468Chimerism, Additional Donor 
3005454Chimerism, Posttransplant 
3005401Chimerism, Posttransplant, Sorted Cells (B Cells) 
3005441Chimerism, Posttransplant, Sorted Cells (CD 56+ Cells) 
3005409Chimerism, Posttransplant, Sorted Cells (CD33+ Cells) 
3005433Chimerism, Posttransplant, Sorted Cells (CD34+ Cells) 
3005417Chimerism, Posttransplant, Sorted Cells (Granulocytes) 
3005425Chimerism, Posttransplant, Sorted Cells (Monocytes) 
3005393Chimerism, Posttransplant, Sorted Cells (T Cells) 
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders
2011157Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication
Constitutional Chromosome Studies
2002289Chromosome Analysis, Peripheral Blood
2002287Chromosome Analysis, Rule Out Mosaicism
2005763Chromosome Analysis, Peripheral Blood, with Reflex to Genomic Microarray
2002293Chromosome Analysis, Amniotic Fluid
2008367Chromosome Analysis, Amniotic Fluid, with Reflex to Genomic Microarray
2011130Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray
2002291Chromosome Analysis, Chorionic Villus Sampling (CVS)
2011131Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray
2002288Chromosome Analysis, Products of Conception
2005762Chromosome Analysis, Products of Conception, with Reflex to Genomic Microarray
2002286Chromosome Analysis, Skin Biopsy
0097688Chromosome Analysis—Breakage, Fanconi Anemia
Creatine
2002328Creatine Disorders Panel, Plasma or Serum 
2002333Creatine Disorders Panel, Urine 
2002343Creatine, Urine 
2002340Creatine, Serum or Plasma 
Cystic Fibrosis
3004745Cystic Fibrosis (CFTR) Sequencing and Deletion/Duplication
2013661Cystic Fibrosis (CFTR) Expanded Variant Panel 
2013662Cystic Fibrosis (CFTR) Expanded Variant Panel, Fetal 
Cystine
0081105Cystinuria Panel (Arginine, Cystine, Lysine, Ornithine), Urine 
0081106Cystine Quantitative, Urine 
Cytochrome P450
3001524Cytochrome P450 Genotyping Panel 
3004255Cytochrome P450 Genotyping Panel, with GeneDose Access 
3004310CYP2B6 
3001508CYP2C19 
3001501CYP2C8, CYP2C9, and CYP2C cluster 
3001513CYP2D6 
3001518CYP3A4 and CYP3A5 
Epilepsy
3001591Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication 
2013352Pyridoxine-Dependent Epilepsy Panel, Serum or Plasma 
2013355Pyridoxine-Dependent Epilepsy Panel, Urine 
Erythrocytosis
3005721Hereditary Erythrocytosis Panel, Sequencing 
Exome
3016583Exome Sequencing 
3016589Exome Sequencing, Familial Control
3001457Exome Reanalysis (Originally Test at ARUP - No Specimen Required) 
Fabry Disease
2003204Alpha-Galactosidase, Serum 
Factor V Leiden
0030192APC Resistance Profile with Reflex to Factor V Leiden
0097720Factor V Leiden (F5) R506Q Mutation 
Factor XIII (F13A1) V34L Variant
2003220Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians) 
Familial Adenomatous Polyposis
3004407APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/Duplication
Familial Hypercholesterolemia
3002110Familial Hypercholesterolemia Panel, Sequencing
Familial Mutation Testing
3005867Familial Targeted Sequencing 
3005869Familial Targeted Sequencing, Fetal 
Familial Transthyretin Amyloidosis (TTR)
3004531Familial Transthyretin Amyloidosis (TTR)
Fatty Acids
3003086Fatty Acids Profile, Essential in Red Blood Cells 
2013518Fatty Acids Profile, Essential Serum or Plasma 
Fatty Acid Oxidation Disorders
3001851Fatty Acid Oxidation Disorders Panel, Sequencing 
0051205Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations
3004419Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication
FISH (Constitutional)—Aneuploidy Panels
0040208Aneuploidy Panel by FISH (13, 18, 21, X, & Y—newborn whole blood)
0040203Chorionic Villus, FISH (13, 18, 21, X, & Y—CVS)
2011130Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray
2002297Chromosome FISH, Prenatal (13, 18, 21, X, & Y—Amniotic Fluid)
2011131Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray
FISH (Constitutional)—Aneuploidy Panels with Reflex Testing
2011130Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray
2011131Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray
FISH (Constitutional)—Individual Metaphase Probes
2002299Chromosome FISH, Metaphase—15q11.2-13 duplication (15q11.2-13)
2002299Chromosome FISH, Metaphase—Cri-du-chat (5p-) syndrome (5p15.2) 
2002299Chromosome FISH, Metaphase—DiGeorge/Velocardiofacial (VCF) syndrome (22q11.2) 
2002299Chromosome FISH, Metaphase—Kallmann syndrome (Xp22.3) 
2002299Chromosome FISH, Metaphase—Miller-Dieker (Lisencephaly) syndrome (17p13.3) 
2002299Chromosome FISH, Metaphase—Phelan McDermid (22qter) syndrome (22q13.3) 
2002299Chromosome FISH, Metaphase—Prader-Willi syndrome (15q11.2-13) 
2002299Chromosome FISH, Metaphase—SHOX (Xp22.3) 
2002299Chromosome FISH, Metaphase—Smith-Magenis syndrome (17p11.2) 
2002299Chromosome FISH, Metaphase—SRY/male detection (Yp11.3) 
2002299Chromosome FISH, Metaphase—Steroid sulfatase deficiency (STS) (Xp22.3) 
2002299Chromosome FISH, Metaphase—Williams (elastin) syndrome (7q11.23) 
2002299Chromosome FISH, Metaphase—Wolf-Hirschhorn (4p-) syndrome (4p16.3) 
2002299Chromosome FISH, Metaphase—Yq12 
2002299Chromosome FISH, Metaphase—Angelman syndrome (15q11.2-13) 
FISH (Constitutional)—Individual Interphase Probes
2002298Chromosome FISH, Interphase—X centromere 
2002298Chromosome FISH, Interphase—Y centromere 
Fragile X
2009033Fragile X (FMR1) with Reflex to Methylation Analysis 
2009034Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal 
G6PD Deficiency
3004457Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing 
0051684Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A) 
Galactosemia
3001790Galactose-1-Phosphate Uridyltransferase (GALT Enzyme), RBC
0051175Galactosemia, (GALT) Enzyme Activity & 9 Mutations
0051176Galactosemia, (GALT) 9 Mutations 
3004716Galactosemia (GALT) Sequencing and Deletion/Duplication 
0081296Galactose-1-Phosphate in Red Blood Cells 
0051270Galactosemia, (GALT ) 9 Mutations, Fetal 
Gastrointestinal Cancer
3005963Hereditary Gastric Cancer Panel, Sequencing and Deletion/Duplication 
3005697Hereditary Gastrointestinal Cancer High-Risk Panel, Sequencing and Deletion/Duplication 
2013449Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication 
2012032Hereditary Cancer Panel, Sequencing and Deletion/Duplication 
3001605Lynch Syndrome Panel, Sequencing and Deletion/Duplication
3004407APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/Duplication
0051750BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation 
3004308MLH1 Promoter Methylation 
0049302Mismatch Repair by Immunohistochemistry 
3004277Microsatellite Instability (MSI) HNPCC/Lynch Syndrome by PCR 
2005270Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation 
Gaucher Disease
3001648Gaucher Disease (GBA) Sequencing
0051438Gaucher Disease (GBA), 8 Variants 
2014459Gaucher Disease (GBA), Enzyme Activity in Leukocytes 
Genome
3005928Rapid Whole Genome Sequencing, Familial Control
3005933Rapid Whole Genome Sequencing, Familial Control with Report
3005935Rapid Whole Genome Sequencing
3016493Whole Genome Sequencing
3016497Whole Genome Sequencing, Familial Control
3005939Whole Genome Reanalysis
Genomic Microarray
2003414Cytogenomic SNP Microarray
2006267Cytogenomic SNP Microarray Buccal Swab
2006325Cytogenomic SNP Microarray—Oncology 
2002366Cytogenomic SNP Microarray—Fetal
2005633Genomic SNP Microarray, Products of Conception
3004273Cytogenomic Molecular Inversion Probe Array, FFPE Tissue - Products of Conception
Glutarylcarnitine
2001510Glutarylcarnitine, Quantitative, Urine 
Hearing Loss
3004720Connexin 26 (GJB2) Sequencing and Deletion/Duplication
2001956Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions 
Hemoglobinopathies
2005792Hemoglobin Evaluation Reflexive Cascade 
3000894Hereditary Hemolytic Anemia Cascade 
3004547Beta Globin (HBB) Gene Sequencing
3003144Deletion/Duplication Analysis by MLPA 
3004550Beta Globin (HBB) Sequencing, Fetal
2011708Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication
3003651Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring
2011622Alpha Globin (HBA1 and HBA2) Deletion/Duplication
3003656Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring, Fetal
3001957Gamma Globin (HBG1 and HBG2) Sequencing 
0050610Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility 
0050520Hemoglobin S, Evaluation with Reflex to RBC Solubility 
2013399Hemoglobin S, Sickle Solubility 
0049090Heinz Body Stain 
0049020Hemoglobin, Unstable 
Hemophilia
3004232Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication
2001759Hemophilia A (F8) 2 Inversions 
3004241Hemophilia A (F8) Sequencing 
2001755Hemophilia A (F8) 2 Inversions, Fetal 
Hereditary Hemochromatosis
0055656Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C)
Hereditary Hemolytic Anemia
3000894Hereditary Hemolytic Anemia Cascade 
2012052Hereditary Hemolytic Anemia Panel, Sequencing 
Hereditary Hemorrhagic Telangiectasia (HHT)
2009337Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication 
2007384Vascular Malformations Panel, Sequencing and Deletion/Duplication, 10 Genes 
Hereditary Myeloid Neoplasms
3001842Hereditary Myeloid Neoplasms Panel, Sequencing 
Hereditary Paraganglioma-Pheochromocytoma Syndromes
3005912Hereditary Paraganglioma-Pheochromocytoma Expanded Panel, Sequencing and Deletion/Duplication 
3004480Hereditary Paraganglioma-Pheochromocytoma (SDHA, SDHB, SDHC, and SDHD) Panel, Sequencing and Deletion/Duplication
Heterotaxy/Situs Inversus
3002682Heterotaxy and Situs Inversus Panel, Sequencing 
3001621Primary Ciliary Dyskinesia Panel, Sequencing
HLA Testing
3002307HLA Class I Panel (ABC) by Next Generation Sequencing 
3002061HLA Class I and II Panel (A,B,C,DRB1, DQA1, DQB1, DPB1) by Next Generation Sequencing 
3002062HLA Class I and II Panel (A,B,C,DRB1, DRB345, DQA1, DQB1, DPA1, DPB1) by Next Generation Sequencing 
3002308HLA Class II Panel (DRB1, DQA1 and DQB1) by Next Generation Sequencing 
2012494HLA-DRB1 by Next Generation Sequencing 
HLA-B Pharmacogenetic Testing
2012049HLA-B*15:02 Genotyping, Carbamazepine Hypersensitivity 
3017549HLA-B51 Genotyping, Behcet Disease 
2002429HLA-B*5701 Associated Variant Genotyping for Abacavir Sensitivity 
3001393HLA-B*58:01 Genotyping, Allopurinol Hypersensitivity 
HLA-B27 (Ankylosing Spondylitis) Genotyping
0050392Ankylosing Spondylitis (HLA-B27) Genotyping 
Holoprosencephaly
2008848Holoprosencephaly Panel, Sequencing and Deletion/Duplication 
2008863Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal
Huntington Disease
3016908Huntington Disease (HD) CAG Repeat Expansion
Kell Antigen Genotyping
3002001Kell K/k Antigen (KEL) Genotyping 
Loeys-Dietz Syndrome
3003947Loeys-Dietz Syndrome Core Panel, Sequencing 
Lynch Syndrome
3001605Lynch Syndrome Panel, Sequencing and Deletion/Duplication
0051750BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation 
3004308MLH1 Promoter Methylation 
0049302Mismatch Repair by Immunohistochemistry 
3004277Microsatellite Instability (MSI) HNPCC/Lynch Syndrome by PCR 
2005270Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation 
Lysosomal Acid Lipase
2012266Lysosomal Acid Lipase Activity, Dried Blood Spot 
Malignant Hyperthermia Susceptibility
3002688Malignant Hyperthermia Panel, Sequencing
Methylenetetrahydrofolate Reductase (MTHFR)
0055655Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations 
Methylmalonic Acid
2005255Methylmalonic Acid, Serum or Plasma (Metabolic Disorders)
Mitochondrial Disorders
3001959Mitochondrial Disorders Panel (mtDNA and Nuclear Genes) 
3001965Mitochondrial Disorders (mtDNA) Sequencing and Deletion Analysis by NGS 
MODY and Neonatal Diabetes
3001593MODY and Neonatal Diabetes Panel, Sequencing
Mucolipidosis IV
2012259Keratan Sulfate, Quantitative by LC-MS/MS, Urine 
0051448Mucolipidosis Type IV (MCOLN1), 2 Variants
Mucopolysaccharidoses (MPS)
0081352Mucopolysaccharides Electrophoresis and Quantitation, Urine
0081357Mucopolysaccharides, Quantitative, Urine 
2011415Alpha-Iduronidase Enzyme Activity in Leukocytes
3003566Mucopolysaccharidoses Type 1/2, Total Heparan Sulfate and NRE (Sensi-Pro®) Quantitative, Serum or Plasma 
3003552Mucopolysaccharidoses Type 1/2, Total Heparan Sulfate and NRE (Sensi-Pro®) Quantitative, Urine 
3003487Mucopolysaccharidoses Type 4A/6 Total Chondroitin Sulfate and Dermatan Sulfate with NRE (Sensi-Pro®) Quantitative, Serum 
3003539Mucopolysaccharidoses Type 4A/6 Total CS-DS and NRE (Sensi-Pro®) Quantitative, Urine 
Multiple Endocrine Neoplasia
3004437Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication
3004572Multiple Endocrine Neoplasia Type 2 (MEN2), RET Sequencing
Muscular Dystrophy
2011241Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing
2011235Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication
2011153Duchenne/Becker Muscular Dystrophy (DMD) Sequencing
2011231Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal
3001839Emery-Dreifuss Muscular Dystrophy Panel, Sequencing
3001907Myotonic Dystrophy Type 1 (DMPK) CTG Expansion
Narcolepsy
2005023Narcolepsy (HLA-DQB1*06:02) Genotyping 
Neurofibromatosis Type 1 and Legius Syndrome
3003927Neurofibromatosis Type 1 and Legius Syndrome Panel, Sequencing and Deletion/Duplication
Non-Alcoholic Fatty Liver Disease
2014599Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping

 

Non-Invasive Prenatal Aneuploidy Screen (Cell-Free DNA)
3003043Non-Invasive Prenatal Aneuploidy Screen by cell-free DNA Sequencing 
Noonan Syndrome
2010772Noonan Spectrum Disorders Panel, Sequencing
2010769Noonan Spectrum Disorders Panel, Sequencing, Fetal
Oncology Studies
2002292Chromosome Analysis, Bone Marrow 
2002290Chromosome Analysis, Leukemic Blood 
2007130Bone Marrow, Chromosome Analysis with Reflex to Genomic Microarray 
2007131Leukemic Blood, Chromosome Analysis with Reflex to Genomic Microarray 
2002300Chromosome Analysis, Lymph Node 
2002296Chromosome Analysis, Solid Tumor 
Oncology Studies, FISH—Blood and Bone Marrow Panels
2002647Acute Lymphocytic Leukemia (ALL) Panel by FISH, Adult 
2002719Acute Lymphocytic Leukemia (ALL) Panel by FISH, Pediatric 
2002653Acute Myelogenous Leukemia (AML) with Myelodysplastic Syndrome (MDS), or Therapy-Related AML, by FISH 
3016654Acute Myelogenous Leukemia Panel by FISH 
2002295Chromosome FISH, CLL Panel 
2006270Chromosome FISH, Multiple Myeloma Panel Process and Hold 
2002378Eosinophilia Panel by FISH 
3002737FISH, Interphase, CD138+ Cells 
2002650Lymphoma (Aggressive) Panel by FISH 
3002063Multiple Myeloma Panel by FISH 
2002709Myelodysplastic Syndrome (MDS) Panel by FISH 
2002360Myeloproliferative Disorders Panel by FISH 
2002363PML/RARα Translocation by FISH 
Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe
2002298Chromosome FISH, Interphase—ASS1; +9/9q34 
2002298Chromosome FISH, Interphase—ATM; del(11)(q22.3) 
2002298Chromosome FISH, Interphase—BCL6; 3q27 
2002298Chromosome FISH, Interphase—BCR-ABL1; t(9;22)(q34;q11.2) 
2002298Chromosome FISH, Interphase—CBFB; inv(16)(p13.3q22)/t(16;16)(p13;q22) 
2002298Chromosome FISH, Interphase—CCND1-IGH@; t(11;14)(q13;q32) 
2002298Chromosome FISH, Interphase—Chromosome 10, centromere 
2002298Chromosome FISH, Interphase—Chromosome 4, centromere 
2002298Chromosome FISH, Interphase—Chromosome 8, centromere 
2002298Chromosome FISH, Interphase—CKS1B; 1q21 
2002298Chromosome FISH, Interphase—D12Z3; +12 
2002298Chromosome FISH, Interphase—D13S319; del(13)(q14.3) 
2002298Chromosome FISH, Interphase—D20S108; del(20)(q12) 
2002298Chromosome FISH, Interphase—D7S486; del(7)(q31)/-7 
2002298Chromosome FISH, Interphase—DDIT3 (CHOP); 12q13 
2002298Chromosome FISH, Interphase—EGR1; del(5)(q31) 
2002298Chromosome FISH, Interphase—ETV6-RUNX1 (TEL-AML1); t(12;21)(p13;q22) 
2002298Chromosome FISH, Interphase—EWSR1; 22q12.2 
2002298Chromosome FISH, Interphase—FGFR1; 8p12 
2002298Chromosome FISH, Interphase—FGFR3-IGH@; t(4;14)(p16;q32) 
2002298Chromosome FISH, Interphase—IGH@-BCL2; t(14;18)(q32;q21) 
2002298Chromosome FISH, Interphase—IGH@-MAF; t(14;16)(q32;q23.1) 
2002298Chromosome FISH, Interphase—IGH@; 14q32 
2002298Chromosome FISH, Interphase—MALT1; 18q21 
2002298Chromosome FISH, Interphase—MLL; 11q23 
2002298Chromosome FISH, Interphase—MYC; 8q24 
2002298Chromosome FISH, Interphase—PDGFRα-CHIC2-FIP1L1; 4q12 
2002298Chromosome FISH, Interphase—PDGFRβ; 5q32 
2002298Chromosome FISH, Interphase—PML-RARA; t(15;17)(q22;q21) 
2002298Chromosome FISH, Interphase—PML; +15 
2002298Chromosome FISH, Interphase—RUNX1T1-RUNX1 (ETO-AML1); t(8;21)(q22;q22) 
2002298Chromosome FISH, Interphase—SS18 (SYT); 18q11.2 
2002298Chromosome FISH, Interphase—TCF3 (E2A); 19p13 
2002298Chromosome FISH, Interphase—TP53 (p53); del(17)(p13.1) 
Oncology Studies, FISH—Other
2002528Pancreatobiliary FISH 
Oncology Studies, FISH—Paraffin Block
30013091p/19q Deletion by FISH 
3001495Aggressive B-Cell Lymphoma Reflex Panel by FISH, Tissue 
3001302ALK Gene Rearrangements by FISH, Lung 
3001311BCL6 (3q27) Gene Rearrangement by FISH 
3001304DDIT3 (CHOP) (12q13) Gene Rearrangement by FISH 
3001310EGFR Gene Amplification by FISH 
2008603ERBB2 (HER-2/neu) Gene Amplification by FISH, Tissue 
3001305EWSR1 (22q12) Gene Rearrangement by FISH 
3001297FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH 
3000548FUS (16p11) Gene Rearrangement by FISH 
3001298IGH-BCL2 Fusion, t(14;18) by FISH for Detection in Follicular Lymphoma 
3001306IGH-CCND1 Fusion, t(11;14) by FISH 
3001299IGH-MYC Fusion t(8;14) by FISH 
3001568IRF4/DUSP22 (6p25) Gene Rearrangement by FISH 
3001313MET Gene Amplification by FISH 
3001301MDM2 Gene Amplification by FISH 
3001300MYC (8q24) Gene Rearrangement by FISH 
3001307MYCN (N-MYC) Gene Amplification by FISH 
3001312RET Gene Rearrangements by FISH 
3001308ROS1 by FISH 
3001303SS18 (SYT) (18q11) Gene Rearrangement by FISH 
Oncology Studies, Microarray
2007130Bone Marrow, Chromosome Analysis with Reflex to Genomic Microarray 
2007131Leukemic Blood, Chromosome Analysis with Reflex to Genomic Microarray 
3004275Cytogenomic Molecular Inversion Probe Array FFPE Tissue – Oncology 
2006325Cytogenomic SNP Microarray—Oncology 
Opioid Receptor, Mu
2008767Opioid Receptor, Mu (OPRM1) Genotype, 1 Variant 
Organic Acids
0098389Organic Acids, Urine
Orotic Acid
3000704Orotic Acid, Urine
Osteogenesis Imperfecta
3001607Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing
Ovarian Cancer
2012026Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication 
3001855BRCA1 and BRCA2-Associated HBOC Syndrome Panel, Sequencing and Deletion/Duplication 
2012032Hereditary Cancer Panel, Sequencing and Deletion/Duplication 
Pancreatic Cancer
3005708Hereditary Pancreatic Cancer Panel, Sequencing and Deletion/Duplication 
Pancreatitis
3004788Pancreatitis, Panel (CFTR, CTRC, PRSS1, SPINK1) Sequencing
Periodic Fever Syndromes
2007370Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication 
3004434Familial Mediterranean Fever (MEFV) Sequencing
Peroxisomal Disorders
3002700Peroxisomal Disorders Panel, Sequencing
Pharmacogenetics Panels
3004471Pharmacogenetics Panel: Psychotropics 
3006366Pharmacogenetics Panel: Psychotropics, with GeneDose Access 
Phenylalanine
0080336Phenylalanine and Tyrosine, Plasma (monitoring only) 
0080315Phenylalanine Monitoring, Plasma (monitoring only) 
Pipecolic Acid
2007406Pipecolic Acid, Serum or Plasma
2008131Pipecolic Acid, Urine 
Plasminogen Activator Inhibitor-1
2004980Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping 
Platelet Antigen Genotyping
3000193Platelet Antigen Genotyping Panel 
3016673Platelet Antigen Genotyping Panel, Fetal 
Pompe Disease
2014463Pompe Disease (GAA), Enzyme Activity in Leukocytes 
Prader-Willi Syndrome
3006247Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPA
2002299Chromosome FISH, Metaphase—Prader-Willi syndrome (15q11.2-13) 
Primary Antibody Deficiency
2011156Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication
Prostate Cancer
3005686Hereditary Prostate Cancer Panel, Sequencing and Deletion/Duplication 
Prothrombin (Factor II)
0056060Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II)
Pulmonary Arterial Hypertension (PAH)
2009345Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication
Renal Cancer
2010214Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication 
2012032Hereditary Cancer Panel, Sequencing and Deletion/Duplication 
Retinoblastoma
3005696Hereditary Retinoblastoma (RB1) Sequencing and Deletion/Duplication 
Rh Genotyping
0051368Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) 
3002002RhC/c (RHCE) Antigen Genotyping 
3002003RhE/e (RHCE) Antigen Genotyping 
Schwachman-Diamond Syndrome
2006240Schwachman-Diamond Syndrome (SBDS) Sequencing
Serum Screening—First- and Second-Trimester Combined
3000147Maternal Serum Screening, Integrated, Specimen #1, PAPP-A, NT 
3000149Maternal Serum Screening, Integrated, Specimen #2, Alpha Fetoprotein, hCG, Estriol, and Inhibin A 
3000146Maternal Screening, Sequential, Specimen #1, hCG, PAPP-A, NT 
3000148Maternal Screening, Sequential, Specimen #2, Alpha Fetoprotein, hCG, Estriol, and Inhibin A 
Serum Screening—First-Trimester
3000145Maternal Serum Screen, First Trimester, hCG, PAPP-A, NT 
Serum Screening—Second-Trimester
3000144Maternal Serum Screen, Alpha Fetoprotein 
3000143Maternal Serum Screen, Alpha Fetoprotein, hCG, Estriol, and Inhibin A (Quad) 
SHOX Deficiency Disorders
3004603SHOX Deficiency Disorders, Sequencing and Deletion/Duplication
3003144Deletion/Duplication Analysis by MLPA 
Skeletal Dysplasia
2012010Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal 
2012015Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication 
Skin Cancer
3002673Hereditary Melanoma Panel, Sequencing and Deletion/Duplication 
Spinal Muscular Atrophy (SMA)
2013436Spinal Muscular Atrophy (SMA) Copy Number Analysis
2013444Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal 
Statin Sensitivity
2008426SLCO1B1, 1 Variant 
Stickler Syndrome
3001613Stickler Syndrome Panel, Sequencing
Succinylacetone
2007401Succinylacetone, Quantitative, Urine 
Tay-Sachs Disease
3004486Tay-Sachs Disease (HEXA) Sequencing and Deletion/Duplication
0051428Tay-Sachs Disease (HEXA), 7 Variants
Thanatophoric Dysplasia
0051506Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations
0051508Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations, Fetal 
Thiopurine Methyltransferase
3017372TPMT Genotyping 
3017373NUDT15 Genotyping 
3001535TPMT and NUDT15 
Thrombotic Risk
0030133Thrombotic Risk, Inherited Etiologies (Most Common) with Reflex to Factor V Leiden
0056200Thrombotic Risk, DNA Panel (FVL, Factor II, MTHFR) 
Thyroid Cancer
3005944Hereditary Thyroid Cancer Panel, Sequencing and Deletion/Duplication 
Tuberous Sclerosis Complex
3002100Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication
3002096Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication, Fetal
Twin Zygosity Testing
3016875Twin Zygosity 
Tyrosine
0080355Tyrosine, Plasma 
UGT1A1 Gene Analysis
3004386UGT1A1 Sequencing 
0051332UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping 
Vascular Malformation Syndromes
2007384Vascular Malformations Panel, Sequencing and Deletion/Duplication 
2009337Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication 
3002286Cerebral Cavernous Malformation Panel, Sequencing and Deletion/Duplication
3003634Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/Duplication
3003144Deletion/Duplication Analysis by MLPA 
Von Willebrand Disease
3004379von Willebrand Disease (VWF) Sequencing
Warfarin Genotyping
3001541Warfarin Sensitivity (CYP2C9, CYP2C cluster, CYP4F2, VKORC1) Genotyping 
Wilson Disease
3004411Wilson Disease (ATP7B) Sequencing
X-Chromosome Inactivation
2006352X-Chromosome Inactivation Analysis 
Y Chromosome Microdeletion
2001778Y Chromosome Microdeletion