Natera, Inc.

Personnel

Director: J. Dianne Keen-Kim, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
Phone: 6502499090
Email: support@natera.com

Conditions and tests

294 conditions/phenotypes with 45 tests
Enter text to narrow down the list

22q partial monosomy1 test
3 beta-Hydroxysteroid dehydrogenase deficiency4 tests
3-methylcrotonyl-CoA carboxylase 1 deficiency4 tests
3-methylcrotonyl-CoA carboxylase 2 deficiency4 tests
3-Methylglutaconic aciduria type 36 tests
3-phosphoglycerate dehydrogenase deficiency9 tests
5p partial monosomy syndrome1 test
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency7 tests
Abetalipoproteinaemia9 tests
Achondrogenesis, type IB7 tests
Achromatopsia 34 tests
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins6 tests
Acyl-CoA dehydrogenase 9 deficiency4 tests
Acyl-CoA oxidase deficiency4 tests
Adrenoleukodystrophy7 tests
Agenesis of the corpus callosum with peripheral neuropathy7 tests
Aicardi Goutieres syndrome4 tests
ALG6-congenital disorder of glycosylation 1C4 tests
alpha Thalassemia16 tests
Alpha thalassemia-intellectual disability syndrome type 13 tests
Alstrom syndrome4 tests
Angelman syndrome1 test
Anomaly of sex chromosome2 tests
Argininosuccinate lyase deficiency7 tests
Aromatase deficiency4 tests
Aspartylglucosaminuria7 tests
Ataxia-telangiectasia syndrome9 tests
Autism spectrum disorder - epilepsy - arthrogryposis syndrome9 tests
Autosomal chromosomal disorder2 tests
Autosomal dominant Alport syndrome9 tests
Autosomal recessive congenital ichthyosis 17 tests
Autosomal recessive DOPA responsive dystonia7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B6 tests
Autosomal recessive limb-girdle muscular dystrophy type 2C7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I4 tests
Autosomal recessive nonsyndromic hearing loss 776 tests
Autosomal recessive osteopetrosis 14 tests
Autosomal recessive polycystic kidney disease16 tests
Bardet-Biedl syndrome 17 tests
Bardet-Biedl syndrome 107 tests
Bardet-Biedl syndrome 124 tests
Bardet-Biedl syndrome 25 tests
Bare lymphocyte syndrome type 2, complementation group A4 tests
Bartter syndrome4 tests
Becker muscular dystrophy22 tests
Bifunctional peroxisomal enzyme deficiency7 tests
Bilateral frontoparietal polymicrogyria4 tests
Biotinidase deficiency7 tests
Bloom syndrome11 tests
Carnitine palmitoyl transferase 1A deficiency7 tests
Carnitine palmitoyltransferase II deficiency9 tests
Carpenter syndrome4 tests
Ceroid lipofuscinosis, neuronal, 6A7 tests
Charcot-Marie-Tooth disease3 tests
Charcot-Marie-Tooth disease type 4D4 tests
Charlevoix-Saguenay spastic ataxia3 tests
Cholestanol storage disease9 tests
Chorea-acanthocytosis6 tests
Choroideremia3 tests
Chromosome 1p36 deletion syndrome1 test
Chronic granulomatous disease, autosomal, due to deficiency of CYBA6 tests
Ciliopathy4 tests
Citrin deficiency7 tests
Citrullinemia type I11 tests
Classic homocystinuria7 tests
Cobalamin C disease11 tests
Cohen syndrome4 tests
Combined malonic and methylmalonic acidemia4 tests
Complete trisomy 13 syndrome1 test
Complete trisomy 21 syndrome1 test
Congenital amegakaryocytic thrombocytopenia9 tests
Congenital chromosomal disease1 test
Congenital disorder of glycosylation type I2 tests
Congenital hyperammonemia, type I4 tests
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type7 tests
Congenital lipoid adrenal hyperplasia due to STAR deficency4 tests
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome6 tests
Congenital myasthenic syndrome 4C9 tests
Congenital neutropenia-myelofibrosis-nephromegaly syndrome4 tests
Corneal dystrophy-perceptive deafness syndrome4 tests
Corticosterone 18-monooxygenase deficiency6 tests
Corticosterone methyloxidase type 2 deficiency6 tests
Creatine transporter deficiency3 tests
Cystic fibrosis32 tests
Cystinosis9 tests
Decreased circulating carnitine concentration7 tests
Deficiency of acetyl-CoA acetyltransferase4 tests
Deficiency of alpha-mannosidase7 tests
Deficiency of galactokinase4 tests
Deficiency of guanidinoacetate methyltransferase4 tests
Deficiency of hyaluronoglucosaminidase4 tests
Deficiency of hydroxymethylglutaryl-CoA lyase7 tests
Deficiency of steroid 17-alpha-monooxygenase4 tests
Diabetes insipidus, nephrogenic, autosomal4 tests
Dizygotic twins1 test
Duchenne muscular dystrophy22 tests
Dyskeratosis congenita, autosomal recessive 57 tests
Ehlers-Danlos syndrome, dermatosparaxis type9 tests
Ellis-van Creveld syndrome4 tests
Enhanced S-cone syndrome6 tests
Epidermolysis bullosa dystrophica4 tests
Ethylmalonic encephalopathy7 tests
Fabry disease3 tests
Familial dysautonomia16 tests
Familial hypercholesterolemia1 test
Familial hypokalemia-hypomagnesemia4 tests
Familial isolated deficiency of vitamin E7 tests
Familial Mediterranean fever6 tests
Fanconi anemia complementation group A6 tests
Fanconi anemia complementation group C11 tests
Fanconi anemia complementation group G4 tests
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 34 tests
Finnish congenital nephrotic syndrome7 tests
Fragile X syndrome16 tests
Fumarase deficiency7 tests
Galactosemia16 tests
Galactosylceramide beta-galactosidase deficiency7 tests
Gaucher disease16 tests
Glucose-6-phosphate transport defect7 tests
Glutaric acidemia IIa4 tests
Glutaric acidemia IIc4 tests
Glutaric aciduria, type 17 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA11 tests
Glycogen storage disease type III9 tests
Glycogen storage disease, type II9 tests
Glycogen storage disease, type IV6 tests
Glycogen storage disease, type V6 tests
Glycogen storage disease, type VII6 tests
GM1 gangliosidosis7 tests
GNE myopathy9 tests
GNPTG-mucolipidosis4 tests
GRACILE syndrome7 tests
Granulomatous disease, chronic, X-linked6 tests
Hemochromatosis type 2A4 tests
Hemochromatosis type 34 tests
Hemoglobinopathy16 tests
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 14 tests
Hereditary acrodermatitis enteropathica4 tests
Hereditary disease1 test
Hereditary factor IX deficiency disease3 tests
Hereditary factor XI deficiency disease6 tests
Hereditary fructosuria7 tests
Hereditary insensitivity to pain with anhidrosis6 tests
Hereditary spastic paraplegia 496 tests
Hermansky-Pudlak syndrome 14 tests
Hermansky-Pudlak syndrome 39 tests
Histiocytic medullary reticulosis6 tests
Holocarboxylase synthetase deficiency4 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency6 tests
Hydrolethalus syndrome4 tests
Hyperammonemia, type III4 tests
Hypercholesterolemia, familial, 15 tests
Hypercholesterolemia, familial, 44 tests
Hyperinsulinemic hypoglycemia, familial, 19 tests
Hyperinsulinemic hypoglycemia, familial, 24 tests
Hyperlipoproteinemia, type I4 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome7 tests
Hypohidrotic X-linked ectodermal dysplasia3 tests
Hypophosphatasia7 tests
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly4 tests
Isolated microphthalmia 26 tests
Isovaleryl-CoA dehydrogenase deficiency11 tests
Joubert syndrome 29 tests
Juvenile retinoschisis3 tests
Kartagener syndrome6 tests
Kidney Transplant Rejection1 test
Kostmann syndrome4 tests
Leber congenital amaurosis4 tests
Leber congenital amaurosis 26 tests
Lethal congenital contracture syndrome 14 tests
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency7 tests
Lysinuric protein intolerance7 tests
Maple syrup urine disease type 1A7 tests
Maple syrup urine disease type 1B9 tests
Meckel syndrome, type 14 tests
Meckel syndrome, type 29 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency16 tests
Megalencephalic leukoencephalopathy with subcortical cysts9 tests
Menkes kinky-hair syndrome3 tests
Metachromatic leukodystrophy9 tests
Metaphyseal chondrodysplasia, McKusick type7 tests
Methylcobalamin deficiency type cblE4 tests
Methylmalonic aciduria and homocystinuria type cblD4 tests
Methylmalonic aciduria, cblA type4 tests
Methylmalonic aciduria, cblB type4 tests
METHYLMALONIC ACIDURIA, mut(0) TYPE4 tests
Microcephaly, normal intelligence and immunodeficiency7 tests
Miscarriage1 test
Mitochondrial complex I deficiency6 tests
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)4 tests
Mitochondrial neurogastrointestinal encephalomyopathy6 tests
MPI-congenital disorder of glycosylation7 tests
Mucolipidosis type IV11 tests
Mucopolysaccharidosis type 111 tests
Mucopolysaccharidosis type 64 tests
Mucopolysaccharidosis, MPS-II3 tests
Mucopolysaccharidosis, MPS-III-A7 tests
Mucopolysaccharidosis, MPS-III-B4 tests
Mucopolysaccharidosis, MPS-III-C4 tests
Mucopolysaccharidosis, MPS-III-D4 tests
Mucopolysaccharidosis, MPS-IV-B7 tests
Multiple congenital anomalies1 test
Multiple sulfatase deficiency9 tests
Muscle eye brain disease7 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 49 tests
Myopathy, lactic acidosis, and sideroblastic anemia6 tests
Nemaline myopathy9 tests
Nephrotic syndrome, type 27 tests
Neuronal ceroid lipofuscinosis 17 tests
Neuronal ceroid lipofuscinosis 27 tests
Neuronal ceroid lipofuscinosis 311 tests
Neuronal ceroid lipofuscinosis 57 tests
Neuronal ceroid lipofuscinosis 74 tests
Neuronal ceroid lipofuscinosis 87 tests
Niemann-Pick disease, type A11 tests
Niemann-Pick disease, type C17 tests
Niemann-Pick disease, type C24 tests
Niemann-Pick disease, type D7 tests
Non-acquired combined pituitary hormone deficiency with spine abnormalities4 tests
Non-ketotic hyperglycinemia7 tests
Nonsyndromic Deafness9 tests
Ornithine aminotransferase deficiency6 tests
Ornithine carbamoyltransferase deficiency6 tests
Pendred syndrome7 tests
Peroxisome biogenesis disorder11 tests
Phenylketonuria9 tests
Pituitary hormone deficiency, combined, 27 tests
PMM2-congenital disorder of glycosylation7 tests
Polyglandular autoimmune syndrome, type 16 tests
Pontocerebellar hypoplasia type 1A6 tests
Pontocerebellar hypoplasia type 2D6 tests
Pontocerebellar hypoplasia type 66 tests
Prader-Willi syndrome1 test
Pregnancy loss, recurrent, 41 test
Primary ciliary dyskinesia 36 tests
Primary ciliary dyskinesia 96 tests
Primary hyperoxaluria type 36 tests
Primary hyperoxaluria, type I7 tests
Primary hyperoxaluria, type II7 tests
Progressive familial intrahepatic cholestasis type 24 tests
Propionic acidemia7 tests
Pseudo-Hurler polydystrophy7 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12 tests
Pyknodysostosis7 tests
Pyruvate dehydrogenase E1-alpha deficiency3 tests
Pyruvate dehydrogenase E1-beta deficiency4 tests
Pyruvate dehydrogenase E3 deficiency9 tests
Renal tubular acidosis with progressive nerve deafness6 tests
Retinal dystrophy4 tests
Retinitis pigmentosa 256 tests
Retinitis pigmentosa 266 tests
Retinitis pigmentosa 286 tests
Retinitis pigmentosa 599 tests
Rhizomelic chondrodysplasia punctata type 111 tests
Rhizomelic chondrodysplasia punctata type 34 tests
Roberts-SC phocomelia syndrome4 tests
Salla disease7 tests
Sandhoff disease7 tests
SchC6pf-Schulz-Passarge syndrome4 tests
Schimke immuno-osseous dysplasia4 tests
Severe combined immunodeficiency due to DCLRE1C deficiency7 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency7 tests
Severe X-linked myotubular myopathy3 tests
Sjögren-Larsson syndrome7 tests
SLC35A2-congenital disorder of glycosylation2 tests
Smith-Lemli-Opitz syndrome16 tests
Solid tumor1 test
Sphingolipid activator protein 1 deficiency4 tests
Spinal muscular atrophy32 tests
Spondylocostal dysostosis 2, autosomal recessive4 tests
Spongy degeneration of central nervous system16 tests
Stuve-Wiedemann syndrome4 tests
Tay-Sachs disease27 tests
Triploidy1 test
Trisomy 181 test
Turner syndrome1 test
Twinning, monozygotic1 test
Tyrosinemia type I11 tests
Usher syndrome type 1B7 tests
Usher syndrome type 1C7 tests
Usher syndrome type 1D7 tests
Usher syndrome type 1F9 tests
Usher syndrome type 2A9 tests
Usher syndrome type 39 tests
Vanishing white matter disease7 tests
Very long chain acyl-CoA dehydrogenase deficiency7 tests
Wilson disease9 tests
Wolman disease6 tests
X-linked Alport syndrome3 tests
X-linked Emery-Dreifuss muscular dystrophy3 tests
X-linked severe combined immunodeficiency5 tests

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling, comments
Pre and post test consult
Insurance appeals support
Insurance billing
SNP based array on POC: Order Code: Anora
Expanded Carrier Screening: Order Code: Horizon Carrier Screening, comments
ACOG/ACMG recommended and pan-ethnic extended panels
Non-Invasive Prenatal Testing: Order Code: Panorama, comments
Aneuploidies, microdeletions
Preimplantation Genetic Diagnosis (PGD): Order Code: Spectrum, comments
Also Preimplantation Genetic Screening using SNP Microarray

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: 05D1082992, Expiration date: 2024-05-13
CAP, Number: 8737934, Expiration date: 2024-02-20
ISO15189, Number: 13485:2003, Expiration date: 2025-03-17

Licenses

CA - California Department of Public Health CDPH, Number: CDF00337104, Expiration date: 2024-04-17
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1901, Effective date: 2018-07-01 Non-expiring
NY - New York State Department of Health NYSDOH, Number: 8417, Expiration date: 2024-06-30
PA - Pennsylvania Department of Health PADOH, Number: 32473, Expiration date: 2024-08-15
RI - State of Rhode Island Department of Health RIDOH, Number: LCO00978, Expiration date: 2025-12-30

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.