BioReference Health

Personnel

Director: Tamera Paczos, MD, FACP, Lab Director
Phone: 800-229-5227
Erin Jarvis, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 800-229-5227
Email: prenatalGC@bioreference.com
Sarah Witherington, MS, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 224-250-3416
Fax: 201-839-9048
Email: switherington@bioreference.com

Conditions and tests

192 conditions/phenotypes with 82 tests
Enter text to narrow down the list

Abetalipoproteinaemia1 test
Acute lymphoid leukemia2 tests
Acute myeloid leukemia4 tests
Adenomatous polyposis coli, attenuated3 tests
APC-related attenuated familial adenomatous polyposis3 tests
Astrocytoma2 tests
Ataxia-telangiectasia syndrome4 tests
Attenuated familial adenomatous polyposis3 tests
Autism spectrum disorder - epilepsy - arthrogryposis syndrome1 test
Autosomal recessive Alport syndrome1 test
Autosomal recessive nonsyndromic hearing loss 1A1 test
Autosomal recessive osteopetrosis 11 test
Autosomal recessive polycystic kidney disease1 test
Autosomal recessive polyposis3 tests
AXIN2-related attenuated familial adenomatous polyposis2 tests
B-cell chronic lymphocytic leukemia2 tests
BAP1-related tumor predisposition syndrome1 test
Bardet-Biedl syndrome 21 test
Basal cell carcinoma1 test
Birt-Hogg-Dube syndrome2 tests
Bloom syndrome2 tests
Breast adenocarcinoma3 tests
Breast and/or ovarian cancer6 tests
Breast cancer, early-onset4 tests
Breast cancer, familial male4 tests
Breast cancer, susceptibility to3 tests
Breast lobular carcinoma4 tests
Breast neoplasm4 tests
Breast-ovarian cancer, familial, susceptibility to, 11 test
Breast-ovarian cancer, familial, susceptibility to, 21 test
Canavan Disease, Familial Form1 test
Carcinoma of colon2 tests
Carcinoma of male breast3 tests
Carcinoma of pancreas1 test
Carney complex1 test
Carnitine palmitoyltransferase II deficiency1 test
CDH1-related diffuse gastric and lobular breast cancer syndrome1 test
Clear cell carcinoma of kidney2 tests
Colon cancer3 tests
Colorectal / endometrial cancer1 test
Colorectal cancer6 tests
Colorectal cancer, hereditary nonpolyposis, type 21 test
Colorectal carcinoma4 tests
Congenital amegakaryocytic thrombocytopenia1 test
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Cystic fibrosis1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
DICER1-related tumor predisposition1 test
Diffuse Gastric Cancer Syndrome1 test
Dyskeratosis congenita, autosomal recessive 51 test
EGFR-related lung cancer1 test
Ehlers-Danlos syndrome, dermatosparaxis type1 test
Embryonal rhabdomyosarcoma1 test
Endometrioid tumor1 test
Familial adenomatous polyposis 11 test
Familial adenomatous polyposis 31 test
Familial aplasia of the vermis1 test
Familial atypical multiple mole melanoma syndrome2 tests
Familial cancer of breast4 tests
Familial colorectal cancer3 tests
Familial dysautonomia1 test
Familial hyperinsulinism1 test
Familial Mediterranean fever1 test
Familial medullary thyroid carcinoma2 tests
Familial multiple polyposis syndrome2 tests
Familial spontaneous pneumothorax1 test
Fanconi anemia1 test
Fanconi anemia complementation group C1 test
Gastric adenocarcinoma and proximal polyposis of the stomach1 test
Gastric cancer2 tests
Gastrointestinal and Colorectal Cancer1 test
Gastrointestinal polyposis1 test
Gastrointestinal stromal tumor3 tests
Gaucher disease1 test
Generalized juvenile polyposis/juvenile polyposis coli2 tests
Glioma3 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Gorlin syndrome2 tests
Hepatoblastoma1 test
Hereditary breast ovarian cancer syndrome4 tests
Hereditary diffuse gastric adenocarcinoma4 tests
Hereditary factor XI deficiency disease1 test
Hereditary gastrointestinal cancer and/or polyposis syndrome3 tests
Hereditary leiomyomatosis and renal cell cancer2 tests
Hereditary mixed polyposis syndrome1 test
Hereditary nonpolyposis colon cancer3 tests
Hereditary Paraganglioma-Pheochromacytoma Syndrome2 tests
Hereditary pheochromocytoma-paraganglioma2 tests
Hereditary retinoblastoma1 test
Hereditary Wilms tumor1 test
Hermansky-Pudlak syndrome 31 test
Hypercholesterolemia, familial, 11 test
Inherited renal cancer-predisposing syndrome1 test
Juvenile Polyposis3 tests
Juvenile polyposis of stomach2 tests
Juvenile polyposis syndrome3 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
Kartagener syndrome1 test
Leukemia, acute lymphoblastic, susceptibility to2 tests
Lhermitte-Duclos disease2 tests
Li-Fraumeni syndrome5 tests
Li-Fraumeni syndrome 11 test
Li-Fraumeni syndrome 21 test
Lung cancer2 tests
Lynch syndrome4 tests
Macrocephaly2 tests
Malignant pancreatic neoplasm1 test
Malignant tumor of breast5 tests
Malignant tumor of prostate6 tests
Malignant tumor of rectum1 test
Malignant tumor of testis3 tests
Malignant tumor of urinary bladder2 tests
Maple syrup urine disease1 test
Medullary thyroid carcinoma1 test
Medulloblastoma1 test
Melanoma5 tests
Melanoma-pancreatic cancer syndrome1 test
Mesothelioma1 test
Mitochondrial complex I deficiency1 test
MSH3-related attenuated familial adenomatous polyposis1 test
Mucolipidosis type IV1 test
Multiple endocrine neoplasia2 tests
Multiple endocrine neoplasia type 2A2 tests
Multiple endocrine neoplasia type 2B2 tests
Multiple endocrine neoplasia, type 12 tests
Multiple endocrine neoplasia, type 22 tests
Multiple myeloma2 tests
Multiple sulfatase deficiency1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
Myelodysplastic syndrome1 test
Myeloproliferative disorder2 tests
Myeloproliferative neoplasm3 tests
Nemaline myopathy 21 test
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1 test
Neoplasm of fallopian tube2 tests
Neoplasm of ovary3 tests
Neoplasm of stomach1 test
Neoplasm of the genitourinary tract5 tests
Neoplasm of the large intestine1 test
Neoplasm of uterus3 tests
Neuroblastoma1 test
Neurofibromatosis2 tests
Neurofibromatosis, type 11 test
Neurofibromatosis, type 21 test
Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome1 test
Niemann-Pick disease, type A1 test
Osteosarcoma2 tests
Ovarian cancer3 tests
Ovarian cancer, susceptibility to, 11 test
Pancreatic cancer, adult5 tests
Papillary renal cell carcinoma type 11 test
Paraganglioma1 test
Parathyroid gland adenoma1 test
Peroxisome biogenesis disorder 5A (Zellweger)1 test
Peutz-Jeghers syndrome5 tests
Phenylketonuria1 test
Pheochromocytoma3 tests
Pheochromocytoma-paraganglioma1 test
PHGDH deficiency1 test
Pleuropulmonary blastoma1 test
POLE-related polyposis and colorectal cancer syndrome1 test
Polymerase proofreading-related adenomatous polyposis1 test
Primary hyperparathyroidism1 test
Prostate cancer susceptibility2 tests
Prostate cancer, hereditary, 12 tests
Prostate cancer/brain cancer susceptibility1 test
PTEN hamartoma tumor syndrome5 tests
Pyruvate dehydrogenase E3 deficiency1 test
Rectal carcinoma1 test
Retinitis pigmentosa1 test
Retinitis pigmentosa 591 test
Retinoblastoma1 test
Rhabdoid tumor1 test
Rhabdoid tumor predisposition syndrome 21 test
Schwannoma1 test
Schwannomatosis1 test
Screening for genetic disease carrier status1 test
Smith-Lemli-Opitz syndrome1 test
Soft tissue sarcoma3 tests
Solid tumor7 tests
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome1 test
Susceptibility to familial cutaneous melanoma2 tests
Tay-Sachs disease1 test
Tuberous sclerosis 12 tests
Tuberous sclerosis 22 tests
Tuberous sclerosis syndrome2 tests
Turcot syndrome with polyposis1 test
Tyrosinemia type I1 test
Usher syndrome type 1F1 test
Uveal melanoma1 test
Von Hippel-Lindau syndrome1 test
Wilson disease1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Insurance billing
Marker Chromosome Identification
Maternal cell contamination study (MCC)
Result interpretation
Uniparental Disomy (UPD) Testing

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: 31D0652945, Expiration date: 2025-11-06
CAP, Number: 1237201, Expiration date: 2024-10-22

Licenses

CA - California Department of Public Health CDPH, Number: CDS-00800242, Expiration date: 2024-08-11
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 482, Effective date: 2023-04-03 Non-expiring
NJ - State of New jersey Department of Health and Senior Service, Number: 0000283, Expiration date: 2024-12-31
NY - New York State Department of Health NYSDOH, Number: 31D0652945, Expiration date: 2024-06-30
PA - Pennsylvania Department of Health PADOH, Number: 22757A, Expiration date: 2024-08-15
RI - State of Rhode Island Department of Health RIDOH, Number: LCO00305, Expiration date: 2025-12-30
WV - West Virginia Department of Health and Human Resources DHHR, Number: 31D0652945, Expiration date: 2024-12-31

Participation in external programs

Standardization programs

Mutation-specific Databases

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.