NxGen MDx

Personnel

Director: Robert Carlson, MD, ABPath, Lab Director
Scott Pritchard, BS, Administrator
Casey Duld, MS, Certified Genetic counselor, CGC, Genetic Counselor

Conditions and tests

166 conditions/phenotypes with 19 tests
Enter text to narrow down the list

3-Methylglutaconic aciduria type 32 tests
Abetalipoproteinaemia2 tests
Achromatopsia 32 tests
Agenesis of the corpus callosum with peripheral neuropathy2 tests
Alkaptonuria2 tests
alpha Thalassemia3 tests
Alpha-1-antitrypsin deficiency1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency3 tests
Aspartylglucosaminuria2 tests
Ataxia-telangiectasia syndrome2 tests
Atelosteogenesis type II2 tests
Autism spectrum disorder - epilepsy - arthrogryposis syndrome2 tests
Autosomal recessive Alport syndrome2 tests
Autosomal recessive DOPA responsive dystonia2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E2 tests
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Autosomal recessive nonsyndromic hearing loss 42 tests
Autosomal recessive polycystic kidney disease2 tests
Bardet-Biedl syndrome 12 tests
Bardet-Biedl syndrome 102 tests
beta Thalassemia3 tests
Biotinidase deficiency2 tests
Bloom syndrome2 tests
Bordetella parapertussis infectious disease1 test
Breast cancer, susceptibility to2 tests
Breast-ovarian cancer, familial, susceptibility to, 11 test
Breast-ovarian cancer, familial, susceptibility to, 22 tests
Breast-ovarian cancer, familial, susceptibility to, 31 test
Breast-ovarian cancer, familial, susceptibility to, 41 test
Carcinoma of colon1 test
Carcinoma of pancreas1 test
Carnitine palmitoyl transferase 1A deficiency2 tests
Carnitine palmitoyl transferase II deficiency, severe infantile form2 tests
Charlevoix-Saguenay spastic ataxia2 tests
Choroideremia2 tests
Citrullinemia type I2 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Classic homocystinuria2 tests
Classical phenylketonuria1 test
Cohen syndrome2 tests
Colorectal cancer, susceptibility to, 101 test
Colorectal cancer, susceptibility to, 121 test
Congenital amegakaryocytic thrombocytopenia2 tests
Congenital prothrombin deficiency3 tests
COVID-194 tests
Cystic fibrosis7 tests
Deficiency of alpha-mannosidase2 tests
Deficiency of butyryl-CoA dehydrogenase2 tests
Deficiency of steroid 11-beta-monooxygenase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2 tests
Dihydropyrimidine dehydrogenase deficiency2 tests
Duchenne muscular dystrophy2 tests
Dyskeratosis congenita, autosomal recessive 12 tests
Ehlers-Danlos syndrome, dermatosparaxis type2 tests
Endometrial carcinoma1 test
Enterovirus infectious disease1 test
Factor V deficiency1 test
Familial adenomatous polyposis 11 test
Familial adenomatous polyposis 21 test
Familial cancer of breast1 test
Familial colorectal cancer1 test
Familial dysautonomia5 tests
Familial isolated deficiency of vitamin E2 tests
Familial Mediterranean fever2 tests
Fanconi anemia complementation group C4 tests
Finnish congenital nephrotic syndrome2 tests
Fragile X syndrome7 tests
Galactosylceramide beta-galactosidase deficiency2 tests
Gaucher disease type I4 tests
Generalized juvenile polyposis/juvenile polyposis coli1 test
Glucose-6-phosphate transport defect2 tests
Glutaric aciduria, type 12 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA4 tests
Glycogen storage disease type III2 tests
Glycogen storage disease, type II2 tests
Glycogen storage disease, type V2 tests
GRACILE syndrome2 tests
Hb SS disease4 tests
Hereditary cancer-predisposing syndrome1 test
Hereditary factor XI deficiency disease2 tests
Hereditary fructosuria2 tests
Hurler syndrome2 tests
Hyperinsulinemic hypoglycemia, familial, 14 tests
Infantile hypophosphatasia2 tests
Influenza3 tests
Isovaleryl-CoA dehydrogenase deficiency2 tests
Joubert syndrome 24 tests
Junctional epidermolysis bullosa gravis of Herlitz2 tests
Junctional epidermolysis bullosa, non-Herlitz type2 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
Juvenile retinoschisis2 tests
Kugelberg-Welander disease5 tests
Legionnaire disease, susceptibility to1 test
Li-Fraumeni syndrome 11 test
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency2 tests
Lynch syndrome 11 test
Lynch syndrome 41 test
Lynch syndrome 51 test
Lynch syndrome 81 test
Malignant tumor of prostate1 test
Maple syrup urine disease4 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
Megalencephalic leukoencephalopathy with subcortical cysts1 test
Megalencephalic leukoencephalopathy with subcortical cysts 11 test
Melanoma, cutaneous malignant, susceptibility to, 21 test
Melanoma, cutaneous malignant, susceptibility to, 31 test
Metachromatic leukodystrophy2 tests
Metaphyseal chondrodysplasia, McKusick type2 tests
Microcephaly, normal intelligence and immunodeficiency2 tests
Mismatch repair cancer syndrome 11 test
MPI-congenital disorder of glycosylation2 tests
Mucolipidosis type IV4 tests
Muir-Torré syndrome1 test
Multiple sulfatase deficiency2 tests
Muscle eye brain disease2 tests
Mycoplasma pneumoniae pneumonia1 test
Nemaline myopathy 24 tests
Nephropathic cystinosis2 tests
Nephrotic syndrome, type 22 tests
Neu-Laxova syndrome 12 tests
Neuronal ceroid lipofuscinosis 12 tests
Neuronal ceroid lipofuscinosis 22 tests
Neuronal ceroid lipofuscinosis 32 tests
Neuronal ceroid lipofuscinosis 52 tests
Neuronal ceroid lipofuscinosis 82 tests
Niemann-Pick disease, type A4 tests
Niemann-Pick disease, type C12 tests
Pancreatic cancer, susceptibility to, 21 test
Pancreatic cancer, susceptibility to, 31 test
Pancreatic cancer, susceptibility to, 41 test
Parainfluenza infectious disease1 test
Pendred syndrome2 tests
Peroxisome biogenesis disorder 1A (Zellweger)2 tests
Perrault syndrome 12 tests
Pertussis1 test
Peutz-Jeghers syndrome1 test
Phenylketonuria1 test
Pituitary hormone deficiency, combined, 22 tests
PMM2-congenital disorder of glycosylation2 tests
Polyglandular autoimmune syndrome, type 12 tests
Primary hyperoxaluria, type I2 tests
Primary hyperoxaluria, type II2 tests
Pyknodysostosis2 tests
Pyruvate dehydrogenase E3 deficiency4 tests
Renal carnitine transport defect2 tests
respiratory syncytial virus infection2 tests
Retinitis pigmentosa 592 tests
Rhabdoid tumor predisposition syndrome 21 test
Rhizomelic chondrodysplasia punctata type 12 tests
Sialic acid storage disease, severe infantile type2 tests
Sialuria2 tests
Sjögren-Larsson syndrome2 tests
Smith-Lemli-Opitz syndrome2 tests
Spinal muscular atrophy3 tests
Spinal muscular atrophy, type II3 tests
Spongy degeneration of central nervous system5 tests
Tay-Sachs disease5 tests
Thrombophilia due to activated protein C resistance1 test
Tyrosinemia type I2 tests
Usher syndrome type 1F4 tests
Usher syndrome type 34 tests
Varicella zoster infection1 test
Very long chain acyl-CoA dehydrogenase deficiency2 tests
Werdnig-Hoffmann disease5 tests
Wilson disease2 tests

List of services

Prenatal testing
Carrier 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: 23D2059943, Expiration date: 2023-10-12

Licenses

CA - California Department of Public Health CDPH, Number: CDS00800625, Expiration date: 2022-10-08
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 2075, Effective date: 2018-07-01 Non-expiring
PA - Pennsylvania Department of Health PADOH, Number: 34962, Expiration date: 2022-08-15

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.