| Document Date: 2014-12-23 10:37:57
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City Alport / / Company CBS / acyl-CoA / GeneDx Inc. / American Express / Mastercard / / Country United States / / Event Business Partnership / / / IndustryTerm insurance / insurance claim / insurance carrier / insurance card / / MedicalCondition Nemaline myopathy / autosomal dominant PRPF8 sequencing Retinitis / Photophobia / also hereditary leiomyomatosis / Metachromatic leukodystrophy / Galactokinase Deficiency / Majeed syndrome / Ectodermal dysplasia / Aromatase deficiency / Alexander disease / Full RSK2 gene sequencing NOW Cornelia de Lange syndrome / Netherton syndrome / negative Usher syndrome / extreme pain disorder / Exostosis / hypocalcemia / Retinitis pigmentosa / deletion/duplication testing Van der Woude syndrome / Multiple endocrine neoplasia Type 2A / recessive nephrolithiasis / negative Bannayan-Riley-Ruvalcaba syndrome / arthritis / tetrahydropterin synthase deficiency / POR deficiency / hypoplasia and associated disorders / CASR sequencing Hereditary rickets / Atypical Rett syndrome / parathyroid carcinoma / granulomatous disease / ABCA12 Lamellar ichthyosis / Multiple endocrine neoplasia type 2B / Mitochondrial disorders / KBG syndrome / Hereditary leiomyomatosis / SMAD4/BMPR1A deletion/duplication testing ONLY Kabuki syndrome / MYOC sequencing Primary open-angle glaucoma / Omenn Syndrome / Carnitine palmitoyltransferase IA deficiency / MCAD deficiency / Goldmann-Favre Syndrome / recessive vitamin D-dependent rickets / Primary/systemic carnitine deficiency / Progressive external ophthalmoplegia / ultrasound abnormalities Hypogonadotropic hypogonadism / Gorlin Syndrome / microphthalmia syndrome / Citrin Deficiency / Primary congenital glaucoma / hypoparathyroidism / Treacher Collins Syndrome / POLG sequencing Retinitis pigmentosa / immune deficiency / Methionine adenosyltransferase I/III deficiency / Congenital nystagmus / FOXE3 sequencing Axenfeld-Rieger syndrome / Cohen syndrome / negative Grieg Cephalopolysyndactyly syndrome / B+ SCID Sub-panel / negative Holoprosencephaly / stationary night blindness / B disease / Smith-Lemli-Opitz syndrome / KRIT1/CCM2/PDCD10 deletion/duplication testing ONLY Chondrodysplasia punctata / deletion/duplication testing Rett syndrome / Dihydrolipoamide Dehydrogenase Deficiency / related cancer syndromes von Hippel-Lindau syndrome / Epidermolytic Hyperkeratosis / SMC1A deletion/duplication Prader-Willi syndrome / metabolic disorders / Chuvash Polycythemia / Hyper-IgD Syndrome / Osteoporosis-pseudoglioma syndrome / TH sequencing Feingold syndrome / paraganglioma-pheochromocytoma syndrome / Shwachman-Diamond Syndrome / PAPA Syndrome / Sjögren-Larsson syndrome / genetic disorders Aicardi-Goutieres Syndrome / Normal tension glaucoma / Clouston syndrome / fetal ultrasound abnormalities Disorders / Homocystinuria / IL7R sequencing Wiskott Aldrich Syndrome / Glutaric aciduria II / ultrasound abnormalities Androgen Insensitivity Syndrome / Stargardt disease / Norrie disease / anhidrosis / IRF6 sequencing Velocardiofacial syndrome / deletion/duplication testing Sanfilippo syndrome/ Mucopolysaccharidosis III / congenital neutropenia / deletion/duplication testing Coffin-Lowry syndrome / RPS19 deletion/duplication testing Dyskeratosis Congenita / dermal hypoplasia/Goltz syndrome / Darier Disease / Premature ovarian failure / Branchiootorenal syndrome / JAK3 deficiency / Ornithine transcarbamylase deficiency / Fucosidosis / TEST CODE TEST NAME Disorders / SCID Sub-panel / Agammaglobulinemia / Autoimmune polyendocrinopathy / Tay-Sachs disease / rod-cone dystrophy / Classic Citrullinemia / PAX2 deletion/duplication testing Simpson-Golabi-Behmel Syndrome / Inclusion body myopathy / deletion/duplication testing NOW Oguchi disease / Neutropenia / Papillorenal Syndrome / aortic stenosis / AIRE full gene sequencing NOW Chronic / Bloom Syndrome / Male Write gene/disease / Canavan disease / CYP1B1 sequencing Primary open-angle glaucoma / fever / gene sequencing Retinitis pigmentosa / malignant melanoma / Dent disease / Chanarin-Dorfman syndrome / Cherubism (SH3BP2) Duane-Radial-Ray syndrome / Sandhoff disease / females Retinitis / Schöpf-Schulz-Passarge Syndrome / Marfan Syndrome / deletion/duplication testing Hereditary / APECED / Kallmann syndrome / Incontinentia pigmenti / dehydrogenase deficiency / Lowe syndrome / pyoderma gangrenosum / Osteopetrosis / Carnitine-Acylcarnitine Translocase Deficiency / Pyruvate carboxylase deficiency / deletion/duplication testing Fabry disease / Loeys-Dietz syndrome / Adenosine deaminase deficiency / negative Rubinstein-Taybi syndrome / Eye Disorders Achromatopsia / Leukocyte adhesion deficiency / Inborn errors of metabolism / deficiency / severe primary hyperparathyroidism / Infantile Parkinsonism / Comprehensive Noonan syndrome / CoA carboxylase deficiency / Birt-Hogg-Dubé syndrome / disorders / Diamond-Blackfan anemia / N-acetylglutamate synthase deficiency / Sotos Syndrome / negative Peutz-Jeghers syndrome / genes Usher syndrome / infantile convulsions / familial infantile seizures / CACNA1F sequencing Enhanced S-Cone Syndrome / lymphoproliferative syndrome / Holocarboxylase synthetase deficiency / muscular dystrophy / X-linked SCID / genes SCID / negative Pheochromocytoma / McArdle disease / Saposin deficiency / Hyperparathyroidism-jaw tumor syndrome / LCHAD/trifunctional protein deficiency / CNGA1 sequencing Retinitis pigmentosa / Krabbe disease / CNGA3 sequencing Aniridia / CYP4F22 Erythrodermic ichthyosis / TGFBR2 sequencing Maturity-onset diabetes / deletion/duplication testing Pseudoxanthoma elasticum / HMG CoA lyase deficiency / Salla disease / congenital amaurosis / autosomal dominant BEST1 sequencing Retinitis pigmentosa / thrombocytopenia / recessive hypophosphatemic rickets / prenatal findings X-linked hydrocephalus / Juvenile Polyposis syndrome / negative Smith-Magenis syndrome / Hermansky-Pudlak syndrome / Fumarate hydratase deficiency / Isobutyryl CoA dehydrogenase deficiency / related disorders Next-Gen / Noonan syndrome / fetal ultrasound abnormalities Grieg Cephalopolysyndactyly syndrome / Autism/macrocephaly syndrome / acid lipase deficiency / Periodic fever / Glycogen storage disease / reductase deficiency / Choroideremia / Malonyl-CoA decarboxylase deficiency / MODY / Tyrosinemia / IL7R deficiency / negative Townes-Brocks syndrome / Familial Hibernian Fever / Epidermolysis Bullosa / Ichthyosis vulgaris / negative Pallister Hall Syndrome / Pallister Hall Syndrome / Thoracic Aortic Aneurysm / negative Cowden Syndrome / Pyruvate Dehydrogenase E1-Alpha Deficiency / RLBP1 sequencing Glaucoma / muscular atrophy / Pyruvate Dehydrogenase E1-Beta Deficiency / Mediterranean fever / deletion/duplication testing NOW Holt-Oram syndrome / Congenital indifference to pain / renal cell carcinoma / CRASH syndrome / Arginase deficiency / Glycerol kinase Deficiency / hearing loss / HADHB Full sequencing Lowe syndrome / Pompe disease / Epidermolytic Ichthyosis / Rett syndrome / genes Renal-Coloboma Syndrome / Li-Fraumeni Syndrome/Li-Fraumeni Like Syndrome / dopa-responsive dystonia / Muckle Wells/Familial Cold Urticaria / negative Triphalangeal Thumb Polydactyly / Ichthyosis Prematurity Syndrome / Mucopolysaccharidosis VI / negative Marfan syndrome / acne / Ethylmalonic Encephalopathy / disease / HPS3 Ashkenazi splice mutation Hirschsprung disease / spastic paraplegia / hypophosphatemia / Multiple sulfatase deficiency / Pachyonychia congenita / Niemann-Pick disease / Transthyretin amyloidosis/familial amyloid cardiomyopathy / DiGeorge syndrome / kinesigenic dyskinesia / females Hyper-IgE syndrome / IKBKG/NEMO sequencing Epidermolysis bullosa / XY gonadal dysgenesis / females Oculofaciocardiodental syndrome / IRAK4 deficiency / negative X-linked infantile spasm / deletion/duplication PAX6/DCDC1/ELP4/WT1 Anophthalmia / Popliteal pterygium syndrome / X-linked juvenile retinoschisis / CHARGE syndrome / White sponge nevus / Hailey-Hailey disease / deletion/duplication testing NOW Autism / urticaria / related disorders / Angelman/Angelman-Like Syndrome / Rare Mendelian Disorders / hypercalcemia / TEST CODE TEST NAME Congenital ichthyoses / PSAP-related disorders / Branchiootic syndrome / Biotinidase deficiency / X-linked infantile spasm / familial medullary thyroid carcinoma / CBL/NRAS sequencing Noonan syndrome / Naegeli-Franceschetti-Jadassohn syndrome / Maple Syrup Urine Disease / Neuronal ceroid-lipofuscinosis / TH deficiency / juvenile open-angle glaucoma / RAG2 deficiency / syndrome / familial isolated hyperparathyroidism / respiratory distress / Congenital Ichthyosis / sialic storage disorders / Glycogen storage disease II / hereditary skin / Cyclic neutropenia / Immunodeficiency Syndrome / testing Glycerol kinase Deficiency / / MedicalTreatment radiation / / NaturalFeature ALPS / / OperatingSystem LEOPARD / / Organization ELN / Medicare / GSD V / MADD / / Person Cornelia de Lange / Ty / / / Position physician / negative Usher / Reporting Address Physician / genes Usher / / Product vitamin D / Adenosine / / ProvinceOrState Maryland / Newfoundland / / Technology radiation / CGI / DNA Chip / dom / Alpha / ASL / ultrasound / Transplantation / / URL www.genedx.com / /
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