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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  
3019566Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication, 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  
3019803Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPA, Fetal    
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  
3019342RhD Gene (RHD) Copy Number by PCR   
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)   
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  
2009419Amino Acids Quantitative by LC-MS/MS, 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   
3019336Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Variants  
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  
3017204BRAF 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   
3017101Hemoglobin Evaluation by HPLC With Reflex to Electrophoresis and/or RBC Solubility   
3016616Hemoglobin 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  
3019007Hemochromatosis (HFE) 3 Variants  
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   
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  
3019466Ankylosing 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  
3019937Huntington Disease (HD) CAG Repeat Expansion, Fetal   
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  
3017204BRAF 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  
3017170Narcolepsy HLA-DQ Genotyping (HLA-DQB1*06:02)   
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   
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   
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  
3019803Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPA, Fetal    
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  
3019342RhD Gene (RHD) Copy Number by PCR   
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  
2012015Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication  
2012010Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, 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  
0080336Phenylalanine and Tyrosine   
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