Myriad Genetics, Inc.

Personnel

Director: Karla Bowles, PhD, FACMG, Lab Director
Phone: 800-469-7423
Fax: 801-584-3615
Email: cscomments@myriad.com
Karen Paul, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 888-268-6795 ext 4184
Fax: 650-350-4092
Email: karen.paul@myriad.com

Conditions and tests

317 conditions/phenotypes with 191 tests
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3-Methylglutaconic aciduria type 32 tests
4p partial monosomy syndrome1 test
5p partial monosomy syndrome1 test
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
Achondrogenesis, type IB1 test
Achromatopsia1 test
Adrenoleukodystrophy1 test
Agenesis of the corpus callosum with peripheral neuropathy2 tests
ALG6-congenital disorder of glycosylation 1C1 test
Alkaptonuria1 test
alpha Thalassemia1 test
Alpha-1-antitrypsin deficiency1 test
Alstrom syndrome1 test
Angelman syndrome1 test
Arginase deficiency1 test
Argininosuccinate lyase deficiency1 test
Aspartylglucosaminuria2 tests
Ataxia-telangiectasia syndrome2 tests
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal recessive Alport syndrome2 tests
Autosomal recessive congenital ichthyosis 11 test
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive distal spinal muscular atrophy 21 test
Autosomal recessive DOPA responsive dystonia2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2I1 test
Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive osteopetrosis 11 test
Autosomal recessive polycystic kidney disease2 tests
AXIN2-related attenuated familial adenomatous polyposis2 tests
BAP1-related tumor predisposition syndrome2 tests
Bardet-Biedl syndrome 12 tests
Bardet-Biedl syndrome 102 tests
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 21 test
Becker muscular dystrophy1 test
beta Thalassemia2 tests
Bifunctional peroxisomal enzyme deficiency2 tests
Biotinidase deficiency2 tests
Birt-Hogg-Dube syndrome2 tests
Bloom syndrome2 tests
Breast neoplasm4 tests
Breast-ovarian cancer, familial, susceptibility to, 11 test
Carcinoma of colon1 test
Carnitine palmitoyl transferase 1A deficiency2 tests
Carnitine palmitoyltransferase II deficiency2 tests
Ceroid lipofuscinosis, neuronal, 6A1 test
Cetuximab response1 test
Charlevoix-Saguenay spastic ataxia2 tests
Cholestanol storage disease1 test
Choroideremia1 test
Chromosome 1p36 deletion syndrome1 test
Citrullinemia type I2 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Classic homocystinuria2 tests
Cobalamin C disease1 test
Cockayne syndrome type 11 test
Cockayne syndrome type 21 test
Cohen syndrome2 tests
Colorectal carcinoma1 test
Complete trisomy 13 syndrome1 test
Complete trisomy 20 syndrome1 test
Congenital adrenal hyperplasia2 tests
Congenital adrenal hypoplasia, X-linked1 test
Congenital hyperammonemia, type I1 test
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1 test
Congenital lipoid adrenal hyperplasia due to STAR deficency1 test
Cutis laxa, X-linked1 test
Cystic fibrosis3 tests
Cystinosis1 test
Dabrafenib response1 test
Deficiency of alpha-mannosidase2 tests
Deficiency of butyryl-CoA dehydrogenase2 tests
Deficiency of butyrylcholinesterase1 test
Deficiency of galactokinase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of steroid 11-beta-monooxygenase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2 tests
Diastrophic dysplasia1 test
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 3B1 test
Distal monosomy 10p1 test
Double Y syndrome1 test
Down syndrome1 test
Duchenne muscular dystrophy1 test
Dyskeratosis congenita, autosomal recessive 51 test
EGFR inhibitors response1 test
EGFR-related lung cancer2 tests
Ellis-van Creveld syndrome2 tests
Endometrial carcinoma2 tests
Erlotinib response1 test
Fabry disease1 test
Factor V deficiency1 test
Familial adenomatous polyposis 13 tests
Familial adenomatous polyposis 22 tests
Familial cancer of breast1 test
Familial colorectal cancer2 tests
Familial dysautonomia2 tests
Familial hyperinsulinism1 test
Familial idiopathic steroid-resistant nephrotic syndrome1 test
Familial isolated deficiency of vitamin E2 tests
Familial Mediterranean fever2 tests
Familial medullary thyroid carcinoma2 tests
Familial melanoma2 tests
Familial pancreatic carcinoma2 tests
Familial prostate cancer2 tests
Fanconi anemia complementation group A1 test
Fanconi anemia complementation group C2 tests
Finnish congenital nephrotic syndrome2 tests
Fragile X syndrome2 tests
Fulvestrant response1 test
Galactosylceramide beta-galactosidase deficiency2 tests
Gaucher disease1 test
Gaucher disease perinatal lethal1 test
Gaucher disease type II1 test
Gaucher disease type III1 test
Gefitinib response1 test
Glucose-6-phosphate transport defect2 tests
Glutaric aciduria, type 12 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
Glycogen storage disease type III2 tests
Glycogen storage disease, type II2 tests
Glycogen storage disease, type V1 test
GM1 gangliosidosis type 21 test
GM1 gangliosidosis type 31 test
GNE myopathy2 tests
GNPTG-mucolipidosis1 test
GRACILE syndrome2 tests
Hb SS disease2 tests
Hemoglobin H disease, nondeletional1 test
Hereditary breast ovarian cancer syndrome4 tests
Hereditary diffuse gastric adenocarcinoma2 tests
Hereditary factor XI deficiency disease1 test
Hereditary fructosuria2 tests
Hereditary hemochromatosis1 test
Hereditary leiomyomatosis and renal cell cancer2 tests
Hereditary nonpolyposis colon cancer3 tests
Hereditary papillary renal cell carcinoma2 tests
Hereditary Paraganglioma-Pheochromacytoma Syndrome1 test
Hereditary pheochromocytoma-paraganglioma1 test
Hereditary spastic paraplegia 151 test
Holocarboxylase synthetase deficiency1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Hurler syndrome1 test
Hydrolethalus syndrome1 test
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hypophosphatasia2 tests
Infantile GM1 gangliosidosis1 test
Isovaleryl-CoA dehydrogenase deficiency2 tests
Joubert syndrome 22 tests
Junctional epidermolysis bullosa gravis of Herlitz4 tests
Junctional epidermolysis bullosa, non-Herlitz type3 tests
Juvenile polyposis syndrome2 tests
Juvenile retinoschisis2 tests
Klinefelter syndrome1 test
Lapatinib response1 test
Li-Fraumeni syndrome2 tests
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
Lysosomal acid lipase deficiency1 test
Malignant tumor of breast1 test
Malignant tumor of prostate1 test
Maple syrup urine disease type 1A1 test
Maple syrup urine disease type 1B2 tests
Maple syrup urine disease type 21 test
Meckel-Gruber syndrome1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
Megalencephalic leukoencephalopathy with subcortical cysts2 tests
Megalencephalic leukoencephalopathy with subcortical cysts 11 test
Melanoma-pancreatic cancer syndrome2 tests
Menkes kinky-hair syndrome1 test
Merosin deficient congenital muscular dystrophy2 tests
Metachromatic leukodystrophy2 tests
Metaphyseal chondrodysplasia, McKusick type2 tests
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Methylmalonic aciduria, cblA type1 test
Methylmalonic aciduria, cblB type1 test
Microcephaly, normal intelligence and immunodeficiency2 tests
Mitochondrial trifunctional protein deficiency1 test
Miyoshi muscular dystrophy 11 test
Mosaic trisomy 11 test
Mosaic trisomy 21 test
Mosaic trisomy 31 test
Motor axonal neuropathy1 test
MPI-congenital disorder of glycosylation2 tests
Mucolipidosis type II1 test
Mucolipidosis type IV2 tests
Mucopolysaccharidosis type 11 test
Mucopolysaccharidosis, MPS-II1 test
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-III-C1 test
Mucopolysaccharidosis, MPS-IV-B1 test
Multiple endocrine neoplasia1 test
Multiple endocrine neoplasia, type 11 test
Multiple endocrine neoplasia, type 21 test
Multiple epiphyseal dysplasia type 41 test
Muscle eye brain disease4 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
Nemaline myopathy 22 tests
Nephropathic cystinosis1 test
Nephrotic syndrome, type 21 test
Neuronal ceroid lipofuscinosis 12 tests
Neuronal ceroid lipofuscinosis 22 tests
Neuronal ceroid lipofuscinosis 32 tests
Neuronal ceroid lipofuscinosis 52 tests
Neuronal ceroid lipofuscinosis 81 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant2 tests
Neuronopathy, distal hereditary motor, autosomal recessive 31 test
Neuronopathy, distal hereditary motor, autosomal recessive 41 test
Neuronopathy, distal hereditary motor, autosomal recessive 51 test
Niemann-Pick disease, type A2 tests
Niemann-Pick disease, type B2 tests
Niemann-Pick disease, type C1 test
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C21 test
Non-ketotic hyperglycinemia2 tests
Olaparib response2 tests
Ornithine carbamoyltransferase deficiency1 test
Ovarian cancer1 test
Ovarian epithelial cancer1 test
Ovarian neoplasm1 test
Pancreatic cancer, adult1 test
Panitumumab response1 test
Pearson syndrome1 test
Pemigatinib response1 test
Pendred syndrome2 tests
Peroxisome biogenesis disorder1 test
Peroxisome biogenesis disorder 1A (Zellweger)2 tests
Peroxisome biogenesis disorder 1B1 test
Peroxisome biogenesis disorder 3A (Zellweger)1 test
Peroxisome biogenesis disorder 4A (Zellweger)1 test
Peroxisome biogenesis disorder 4B1 test
Peroxisome biogenesis disorder 5A (Zellweger)1 test
Peroxisome biogenesis disorder 5B1 test
Peroxisome biogenesis disorder 6A (Zellweger)1 test
Peroxisome biogenesis disorder 6B1 test
Peroxisome biogenesis disorder 9B1 test
Pertuzumab response1 test
Peutz-Jeghers syndrome2 tests
Phenylketonuria2 tests
Phytanic acid storage disease1 test
Pituitary hormone deficiency, combined, 22 tests
PMM2-congenital disorder of glycosylation2 tests
Polyglandular autoimmune syndrome, type 12 tests
Polymerase proofreading-related adenomatous polyposis2 tests
Polyposis syndrome, hereditary mixed, 12 tests
Prader-Willi syndrome1 test
Primary hyperoxaluria type 31 test
Primary hyperoxaluria, type I2 tests
Primary hyperoxaluria, type II2 tests
Propionic acidemia2 tests
Prostate cancer, somatic1 test
Pseudo-Hurler polydystrophy1 test
PTEN hamartoma tumor syndrome2 tests
Pyknodysostosis2 tests
Pyruvate carboxylase deficiency1 test
Pyruvate dehydrogenase E3 deficiency2 tests
Qualitative or quantitative defects of beta-sarcoglycan1 test
Qualitative or quantitative defects of delta-sarcoglycan1 test
Qualitative or quantitative defects of dysferlin1 test
Qualitative or quantitative defects of dystrophin1 test
Renal carnitine transport defect2 tests
Retinitis pigmentosa 391 test
Rhizomelic chondrodysplasia punctata type 12 tests
Salla disease2 tests
Sandhoff disease1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
Severe X-linked myotubular myopathy1 test
Sjögren-Larsson syndrome2 tests
Smith-Lemli-Opitz syndrome2 tests
Spinal muscular atrophy2 tests
Spondylocostal dysostosis1 test
Spondylocostal dysostosis 1, autosomal recessive1 test
Spondylocostal dysostosis 2, autosomal recessive1 test
Spongy degeneration of central nervous system2 tests
Sulfate transporter-related osteochondrodysplasia2 tests
Tay-Sachs disease2 tests
Thrombophilia1 test
Thrombophilia due to activated protein C resistance1 test
Trastuzumab emtansine response1 test
Trastuzumab response1 test
Trisomy 11 mosaicism1 test
Trisomy 181 test
Trisomy 61 test
Trisomy 81 test
Trisomy 91 test
Trisomy X syndrome1 test
Tuberous sclerosis syndrome2 tests
Turner syndrome1 test
Tyrosinemia type I2 tests
Tyrosinemia type II1 test
Usher syndrome type 11 test
Usher syndrome type 1C1 test
Usher syndrome type 1F2 tests
Usher syndrome type 2A1 test
Usher syndrome type 32 tests
Vemurafenib response1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Von Hippel-Lindau syndrome2 tests
Walker-Warburg congenital muscular dystrophy3 tests
Wilson disease2 tests
Wolman disease1 test
X-linked Alport syndrome1 test
X-linked severe combined immunodeficiency1 test
Xeroderma pigmentosum group A1 test
Xeroderma pigmentosum, group C1 test

List of services

This lab has no services.

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 05D1102604, Expiration date: 2024-08-07
CLIA, Number: 46D0880690, Expiration date: 2025-04-26
BSI Certification, Number: MD 658966, Expiration date: 2026-05-09
CAP, Number: 7519776, Expiration date: 2024-03-23
CAP, Number: 6314401, Expiration date: 2024-08-20
ISO15189, Number: 5165.01, Expiration date: 2025-03-31

Licenses

CA - California Department of Public Health CDPH, Number: CDF-00338555, Effective date: 2023-04-05, Expiration date: 2024-04-04
CA - California Department of Public Health CDPH, Number: CDS-00800169, Effective date: 2023-09-12, Expiration date: 2024-09-11
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1642, Effective date: 2020-12-01 Non-expiring
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 827, Effective date: 2018-07-01 Non-expiring
NY - New York State Department of Health NYSDOH, Number: PFI: 5414, Effective date: 2023-07-01, Expiration date: 2024-06-30
NY - New York State Department of Health NYSDOH, Number: PFI: 8535, Effective date: 2023-07-01, Expiration date: 2024-06-30
PA - Pennsylvania Department of Health PADOH, Number: 24713A, Effective date: 2023-08-15, Expiration date: 2024-08-15
PA - Pennsylvania Department of Health PADOH, Number: 31837, Effective date: 2023-08-15, Expiration date: 2024-08-15
RI - State of Rhode Island Department of Health RIDOH, Number: LCO00238, Effective date: 1998-07-01, Expiration date: 2024-12-30
RI - State of Rhode Island Department of Health RIDOH, Number: LCO01281, Effective date: 2019-02-28, Expiration date: 2024-12-30

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.