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GTR Home > Laboratories > MNG Laboratories (Medical Neurogenetics, LLC.)

MNG Laboratories (Medical Neurogenetics, LLC.)

GTR Lab ID: 303161, Last updated:2023-08-03

Personnel

  • Director: Geraldine McDowell, PhD, FACMG, Lab Director
    Phone: 678-225-0222
    Fax: 678-225-0212
    Email: MNGquickresponse@labcorp.com
  • Director: Hussain Askree, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Technical Director
    Phone: 678-225-0222
    Fax: 678-225-0212
  • Director: Keith Hyland, PhD, Lab Director
    Phone: 678-225-0222
    Fax: 678-225-0212
    Email: khyland@mnglabs.com
  • Trey Langley, PhD, Staff
    Phone: 678-225-0222
    Fax: 678-225-0212
    Email: tlangley@mnglabs.com

Conditions and tests

  • 3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
  • 3-Methylglutaconic aciduria type 21 test
  • 3-methylglutaconic aciduria type 81 test
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1 test
  • 3M syndrome 11 test
  • 3M syndrome 21 test
  • 3M syndrome 31 test
  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency3 tests
  • Abortive cerebellar ataxia3 tests
  • ABri amyloidosis1 test
  • Achondrogenesis type II1 test
  • Achondroplasia1 test
  • Acquired hemoglobin H disease1 test
  • Acrocallosal syndrome1 test
  • Acrocapitofemoral dysplasia1 test
  • Acromicric dysplasia1 test
  • Actin accumulation myopathy2 tests
  • Action myoclonus-renal failure syndrome1 test
  • Acute intermittent porphyria1 test
  • Acyl-CoA dehydrogenase 9 deficiency1 test
  • ADan amyloidosis1 test
  • Adenylosuccinate lyase deficiency1 test
  • Adult hypophosphatasia1 test
  • Adult neuronal ceroid lipofuscinosis1 test
  • Adult polyglucosan body disease1 test
  • Aicardi Goutieres syndrome1 test
  • Aicardi-Goutieres syndrome 12 tests
  • Aicardi-Goutieres syndrome 22 tests
  • Aicardi-Goutieres syndrome 32 tests
  • Aicardi-Goutieres syndrome 42 tests
  • Aicardi-Goutieres syndrome 52 tests
  • Aicardi-Goutieres syndrome 62 tests
  • Aicardi-Goutieres syndrome 71 test
  • Alexander disease1 test
  • ALG1-congenital disorder of glycosylation1 test
  • ALG11-congenital disorder of glycosylation1 test
  • ALG12-congenital disorder of glycosylation1 test
  • ALG2-congenital disorder of glycosylation1 test
  • ALG3-congenital disorder of glycosylation1 test
  • ALG6-congenital disorder of glycosylation 1C1 test
  • ALG8 congenital disorder of glycosylation1 test
  • ALG9 congenital disorder of glycosylation1 test
  • alpha Thalassemia1 test
  • Alpha thalassemia-X-linked intellectual disability syndrome1 test
  • Alternating hemiplegia of childhood 13 tests
  • Alternating hemiplegia of childhood 21 test
  • Alzheimer disease1 test
  • Alzheimer disease 21 test
  • Alzheimer disease 32 tests
  • Alzheimer disease 42 tests
  • Alzheimer disease 92 tests
  • Amish lethal microcephaly2 tests
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyotrophic lateral sclerosis1 test
  • Amyotrophic lateral sclerosis type 11 test
  • Amyotrophic lateral sclerosis type 102 tests
  • Amyotrophic lateral sclerosis type 111 test
  • Amyotrophic lateral sclerosis type 121 test
  • Amyotrophic lateral sclerosis type 151 test
  • Amyotrophic lateral sclerosis type 161 test
  • Amyotrophic lateral sclerosis type 181 test
  • Amyotrophic lateral sclerosis type 191 test
  • Amyotrophic lateral sclerosis type 2, juvenile1 test
  • Amyotrophic lateral sclerosis type 201 test
  • Amyotrophic lateral sclerosis type 211 test
  • Amyotrophic lateral sclerosis type 41 test
  • Amyotrophic lateral sclerosis type 52 tests
  • Amyotrophic lateral sclerosis type 61 test
  • Amyotrophic lateral sclerosis type 81 test
  • Amyotrophic lateral sclerosis type 91 test
  • Amyotrophic lateral sclerosis-parkinsonism-dementia complex1 test
  • Amyotrophic neuralgia1 test
  • Andersen Tawil syndrome1 test
  • Angelman syndrome1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome2 tests
  • Anxiety1 test
  • Apparent mineralocorticoid excess1 test
  • Arginase deficiency1 test
  • Arginine:glycine amidinotransferase deficiency2 tests
  • Argininosuccinate lyase deficiency1 test
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
  • Ateleiotic dwarfism2 tests
  • Atrial fibrillation, familial, 101 test
  • Atrial fibrillation, familial, 131 test
  • Attention deficit hyperactivity disorder1 test
  • Attention deficit-hyperactivity disorder, susceptibility to, 71 test
  • Atypical hemolytic-uremic syndrome1 test
  • Autism, susceptibility to, 171 test
  • Autism, susceptibility to, X-linked 34 tests
  • Autosomal dominant Alport syndrome1 test
  • Autosomal dominant isolated somatotropin deficiency2 tests
  • Autosomal dominant nonsyndromic hearing loss 171 test
  • Autosomal dominant nonsyndromic hearing loss 691 test
  • Autosomal dominant optic atrophy classic form3 tests
  • Autosomal dominant Parkinson disease 11 test
  • Autosomal dominant pseudohypoaldosteronism type 11 test
  • Autosomal recessive Alport syndrome1 test
  • Autosomal recessive ataxia due to ubiquinone deficiency1 test
  • Autosomal recessive distal spinal muscular atrophy 11 test
  • Autosomal recessive DOPA responsive dystonia3 tests
  • Autosomal recessive early-onset Parkinson disease 71 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2A3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2C3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2I2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
  • Autosomal recessive nonsyndromic hearing loss 41 test
  • Autosomal recessive optic atrophy, OPA7 type1 test
  • Autosomal recessive pseudohypoaldosteronism type 11 test
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
  • Autosomal recessive spastic paraplegia type 781 test
  • Azorean disease3 tests
  • Bartter disease type 11 test
  • Bartter disease type 23 tests
  • Bartter disease type 33 tests
  • Bartter disease type 4A2 tests
  • Bartter disease type 4B4 tests
  • Basal ganglia calcification, idiopathic, 41 test
  • Basal ganglia calcification, idiopathic, 51 test
  • Basal ganglia calcification, idiopathic, 61 test
  • Becker muscular dystrophy1 test
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
  • Bernard Soulier syndrome1 test
  • beta Thalassemia1 test
  • Beta-D-mannosidosis1 test
  • Bethlem myopathy 11 test
  • Bilateral parasagittal parieto-occipital polymicrogyria1 test
  • Blepharospasm1 test
  • Bloom syndrome1 test
  • Brachydactyly type A11 test
  • Brugada syndrome 11 test
  • Brugada syndrome 51 test
  • Brunner syndrome1 test
  • Capillary malformation-arteriovenous malformation 11 test
  • CARASIL syndrome1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 12 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
  • Cardiofaciocutaneous syndrome 31 test
  • Cardiofaciocutaneous syndrome 41 test
  • Carney-Stratakis syndrome3 tests
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyl transferase 1A deficiency1 test
  • Carnitine palmitoyl transferase II deficiency, myopathic form2 tests
  • Carnitine palmitoyl transferase II deficiency, neonatal form2 tests
  • Carnitine palmitoyl transferase II deficiency, severe infantile form2 tests
  • CBL-related disorder1 test
  • Central core myopathy3 tests
  • Cerebral amyloid angiopathy, APP-related3 tests
  • Cerebral cavernous malformation1 test
  • Cerebral cavernous malformation 21 test
  • Cerebral cavernous malformation 31 test
  • Cerebral folate transport deficiency3 tests
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
  • Ceroid lipofuscinosis, neuronal, 6A1 test
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive2 tests
  • Charcot-Marie-Tooth disease axonal type 2F1 test
  • Charcot-Marie-Tooth disease axonal type 2X1 test
  • Charcot-Marie-Tooth disease dominant intermediate D2 tests
  • Charcot-Marie-Tooth disease type 1B2 tests
  • Charcot-Marie-Tooth disease type 1C1 test
  • Charcot-Marie-Tooth disease type 1E3 tests
  • Charcot-Marie-Tooth disease type 1F1 test
  • Charcot-Marie-Tooth disease type 2A22 tests
  • Charcot-Marie-Tooth disease type 2B1 test
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 2D2 tests
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2I2 tests
  • Charcot-Marie-Tooth disease type 2J2 tests
  • Charcot-Marie-Tooth disease type 4F1 test
  • Charcot-Marie-Tooth disease type 4K1 test
  • Charcot-Marie-Tooth disease X-linked dominant 13 tests
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate G1 test
  • Charcot-Marie-Tooth disease, type IA3 tests
  • CHARGE association1 test
  • Childhood apraxia of speech1 test
  • Childhood hypophosphatasia1 test
  • Childhood onset GLUT1 deficiency syndrome 26 tests
  • Citrullinemia type I1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Classic dopamine transporter deficiency syndrome4 tests
  • Cobalamin C disease2 tests
  • Cobblestone lissencephaly without muscular or ocular involvement1 test
  • Coenzyme Q10 deficiency1 test
  • Coenzyme Q10 deficiency, primary, 12 tests
  • Coenzyme Q10 deficiency, primary, 31 test
  • Cold-induced sweating syndrome 11 test
  • Combined deficiency of sialidase AND beta galactosidase1 test
  • Combined oxidative phosphorylation defect type 111 test
  • Combined oxidative phosphorylation defect type 131 test
  • Combined oxidative phosphorylation defect type 141 test
  • Combined oxidative phosphorylation defect type 151 test
  • Combined oxidative phosphorylation defect type 171 test
  • Combined oxidative phosphorylation defect type 22 tests
  • Combined oxidative phosphorylation defect type 201 test
  • Combined oxidative phosphorylation defect type 211 test
  • Combined oxidative phosphorylation defect type 231 test
  • Combined oxidative phosphorylation defect type 241 test
  • Combined oxidative phosphorylation defect type 251 test
  • Combined oxidative phosphorylation defect type 271 test
  • Combined oxidative phosphorylation defect type 301 test
  • Combined oxidative phosphorylation defect type 42 tests
  • Combined oxidative phosphorylation defect type 71 test
  • Combined oxidative phosphorylation defect type 81 test
  • Combined oxidative phosphorylation defect type 91 test
  • Combined oxidative phosphorylation deficiency 191 test
  • Combined oxidative phosphorylation deficiency 281 test
  • Combined oxidative phosphorylation deficiency 291 test
  • Combined oxidative phosphorylation deficiency 321 test
  • Combined oxidative phosphorylation deficiency 391 test
  • Combined oxidative phosphorylation deficiency 442 tests
  • Compton-North congenital myopathy1 test
  • Congenital brain dysgenesis due to glutamine synthetase deficiency2 tests
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
  • Congenital central hypoventilation1 test
  • Congenital disorder of glycosylation type 1E1 test
  • Congenital disorder of glycosylation type Ir1 test
  • Congenital disorder of glycosylation, type ICC1 test
  • Congenital dyserythropoietic anemia1 test
  • Congenital hyperammonemia, type I1 test
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2 tests
  • Congenital multicore myopathy with external ophthalmoplegia3 tests
  • Congenital muscular dystrophy due to LMNA mutation1 test
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
  • Congenital muscular hypertrophy-cerebral syndrome1 test
  • Congenital myasthenic syndrome 102 tests
  • Congenital myasthenic syndrome 111 test
  • Congenital myasthenic syndrome 121 test
  • Congenital myasthenic syndrome 141 test
  • Congenital myasthenic syndrome 163 tests
  • Congenital myasthenic syndrome 171 test
  • Congenital myasthenic syndrome 181 test
  • Congenital myasthenic syndrome 191 test
  • Congenital myasthenic syndrome 201 test
  • Congenital myasthenic syndrome 2A1 test
  • Congenital myasthenic syndrome 2C1 test
  • Congenital myasthenic syndrome 3A1 test
  • Congenital myasthenic syndrome 3B1 test
  • Congenital myasthenic syndrome 3C1 test
  • Congenital myasthenic syndrome 4A1 test
  • Congenital myasthenic syndrome 4B1 test
  • Congenital myasthenic syndrome 4C1 test
  • Congenital myasthenic syndrome 51 test
  • Congenital myasthenic syndrome 71 test
  • Congenital myasthenic syndrome 81 test
  • Congenital myasthenic syndrome 91 test
  • Congenital myopathy 4B, autosomal recessive1 test
  • Congenital myopathy with fiber type disproportion1 test
  • Congenital myotonia, autosomal dominant form2 tests
  • Congenital myotonia, autosomal recessive form2 tests
  • Constitutional megaloblastic anemia with severe neurologic disease2 tests
  • Cornelia de Lange syndrome 11 test
  • Cornelia de Lange syndrome 31 test
  • Cornelia de Lange syndrome 41 test
  • Cornelia de Lange syndrome 51 test
  • Corticosterone 18-monooxygenase deficiency1 test
  • Corticosterone methyloxidase type 2 deficiency1 test
  • Creatine transporter deficiency3 tests
  • Cutis laxa with osteodystrophy1 test
  • Cystathioninuria1 test
  • Cytochrome-c oxidase deficiency disease5 tests
  • D-2-hydroxyglutaric aciduria 11 test
  • Danon disease1 test
  • Deafness dystonia syndrome1 test
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
  • Deficiency of alpha-mannosidase1 test
  • Deficiency of aromatic-L-amino-acid decarboxylase3 tests
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of guanidinoacetate methyltransferase3 tests
  • Deficiency of hyaluronoglucosaminidase1 test
  • Deficiency of hydroxymethylglutaryl-CoA lyase1 test
  • Deficiency of isobutyryl-CoA dehydrogenase1 test
  • Deficiency of malonyl-CoA decarboxylase1 test
  • Deficiency of steroid 11-beta-monooxygenase1 test
  • Dejerine-Sottas disease6 tests
  • Dent disease type 11 test
  • Dentatorubral-pallidoluysian atrophy4 tests
  • Developmental and epileptic encephalopathy, 12 tests
  • Developmental and epileptic encephalopathy, 111 test
  • Developmental and epileptic encephalopathy, 21 test
  • Developmental and epileptic encephalopathy, 361 test
  • Developmental and epileptic encephalopathy, 42 tests
  • Developmental and epileptic encephalopathy, 423 tests
  • Developmental and epileptic encephalopathy, 51 test
  • Developmental and epileptic encephalopathy, 521 test
  • Developmental and epileptic encephalopathy, 74 tests
  • Developmental and epileptic encephalopathy, 83 tests
  • Developmental and epileptic encephalopathy, 91 test
  • Diabetes mellitus, permanent neonatal 32 tests
  • Diabetes mellitus, transient neonatal, 22 tests
  • Dihydropteridine reductase deficiency3 tests
  • Dihydropyrimidinase deficiency1 test
  • Dilated cardiomyopathy 1A1 test
  • Dilated cardiomyopathy 1E1 test
  • Dilated cardiomyopathy 1GG1 test
  • Dilated cardiomyopathy 1L3 tests
  • Dilated cardiomyopathy 1X1 test
  • Dilated cardiomyopathy 3B1 test
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
  • Distal arthrogryposis type 2B11 test
  • Distal myopathy with anterior tibial onset1 test
  • Distal myopathy, Tateyama type1 test
  • DK1-congenital disorder of glycosylation1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency3 tests
  • DPAGT1-congenital disorder of glycosylation1 test
  • DPM3-congenital disorder of glycosylation1 test
  • Duchenne muscular dystrophy1 test
  • Dysplasminogenemia1 test
  • Dystonia 121 test
  • Dystonia 161 test
  • Dystonia 241 test
  • Dystonia 251 test
  • Dystonia 55 tests
  • Dystonia 94 tests
  • Early myoclonic encephalopathy1 test
  • Early-onset autosomal dominant Alzheimer disease1 test
  • EAST syndrome1 test
  • Eichsfeld type congenital muscular dystrophy1 test
  • Elevated circulating creatine kinase concentration1 test
  • Ellis-van Creveld syndrome1 test
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
  • Encephalopathy due to GLUT1 deficiency5 tests
  • Encephalopathy, acute, infection-induced, susceptibility to, 41 test
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome2 tests
  • Epilepsy, early-onset, vitamin B6-dependent2 tests
  • Epilepsy, familial adult myoclonic, 51 test
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, idiopathic generalized, susceptibility to, 102 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 111 test
  • Epilepsy, idiopathic generalized, susceptibility to, 125 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 131 test
  • Epilepsy, idiopathic generalized, susceptibility to, 71 test
  • Epilepsy, idiopathic generalized, susceptibility to, 92 tests
  • Epilepsy, progressive myoclonic, 1B1 test
  • Epiphyseal dysplasia, multiple, 31 test
  • Episodic ataxia type 11 test
  • Episodic ataxia type 22 tests
  • Episodic ataxia type 51 test
  • Episodic ataxia type 61 test
  • Episodic pain syndrome, familial, 22 tests
  • Exercise-induced hyperinsulinism1 test
  • Fabry disease1 test
  • Factor VIII deficiency1 test
  • Factor XIII, A subunit, deficiency of1 test
  • Factor XIII, b subunit, deficiency of1 test
  • Familial dysautonomia1 test
  • Familial episodic pain syndrome with predominantly lower limb involvement2 tests
  • Familial episodic pain syndrome with predominantly upper body involvement1 test
  • Familial hemophagocytic lymphohistiocytosis2 tests
  • Familial hyperaldosteronism type III1 test
  • Familial hyperkalemic periodic paralysis2 tests
  • Familial hypokalemia-hypomagnesemia5 tests
  • Familial infantile myasthenia1 test
  • Familial infantile myoclonic epilepsy1 test
  • Familial partial lipodystrophy, Dunnigan type1 test
  • Familial porphyria cutanea tarda1 test
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness2 tests
  • Familial visceral amyloidosis, Ostertag type1 test
  • Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
  • Fanconi anemia complementation group C1 test
  • Fanconi renotubular syndrome 12 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young3 tests
  • Fatal infantile hypertonic myofibrillar myopathy1 test
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
  • Fetal akinesia deformation sequence 31 test
  • Fibrochondrogenesis 11 test
  • Floating-Harbor syndrome1 test
  • Focal segmental glomerulosclerosis 91 test
  • Fowler syndrome1 test
  • Fragile X syndrome1 test
  • Friedreich ataxia 13 tests
  • Frontotemporal dementia4 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 31 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 61 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 71 test
  • Fructose-biphosphatase deficiency1 test
  • Fumarase deficiency1 test
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Gamma-aminobutyric acid transaminase deficiency1 test
  • Gastrointestinal stromal tumor2 tests
  • Gaucher disease1 test
  • Gaucher disease perinatal lethal1 test
  • Gaucher disease type I2 tests
  • Gaucher disease type II1 test
  • Gaucher disease type III1 test
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1 test
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Generalized epilepsy with febrile seizures plus, type 22 tests
  • Generalized epilepsy with febrile seizures plus, type 72 tests
  • Glanzmann thrombasthenia1 test
  • Glaucoma, normal tension, susceptibility to3 tests
  • Glucocorticoid-remediable aldosteronism1 test
  • Glutamate pyruvate transaminase 2 deficiency1 test
  • Glutaric aciduria, type 12 tests
  • Glutaryl-CoA oxidase deficiency1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA3 tests
  • Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency1 test
  • Glycogen storage disease IXa11 test
  • Glycogen storage disease type III1 test
  • Glycogen storage disease type X1 test
  • Glycogen storage disease, type II4 tests
  • Glycogen storage disease, type IV1 test
  • Glycogen storage disease, type V1 test
  • Glycogen storage disease, type VI2 tests
  • Glycogen storage disease, type VII1 test
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency1 test
  • GNE myopathy1 test
  • GRACILE syndrome1 test
  • Gray platelet syndrome1 test
  • Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome1 test
  • Growth delay due to insulin-like growth factor I resistance1 test
  • Growth delay due to insulin-like growth factor type 1 deficiency1 test
  • Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1 test
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
  • GTP cyclohydrolase I deficiency4 tests
  • Guillain-Barre syndrome, familial3 tests
  • Hartsfield-Bixler-Demyer syndrome1 test
  • Hb SS disease1 test
  • Hearing loss, X-linked 61 test
  • Heart-hand syndrome, Slovenian type1 test
  • Heimler syndrome 11 test
  • Heimler syndrome 22 tests
  • Hemophagocytic syndrome1 test
  • Hemophilia2 tests
  • Hemorrhage, intracerebral, susceptibility to1 test
  • Hepatic methionine adenosyltransferase deficiency1 test
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 12 tests
  • Hereditary cerebral amyloid angiopathy, Icelandic type1 test
  • Hereditary cryohydrocytosis with reduced stomatin3 tests
  • Hereditary disease7 tests
  • Hereditary factor I deficiency disease1 test
  • Hereditary factor IX deficiency disease1 test
  • Hereditary leiomyomatosis and renal cell cancer1 test
  • Hereditary liability to pressure palsies3 tests
  • Hereditary motor and sensory neuropathy with optic atrophy2 tests
  • Hereditary sensory and autonomic neuropathy type 71 test
  • Hereditary spastic paraplegia 111 test
  • Hereditary spastic paraplegia 131 test
  • Hereditary spastic paraplegia 3A2 tests
  • Hereditary spastic paraplegia 43 tests
  • Hereditary spastic paraplegia 71 test
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
  • Hereditary thrombophilia1 test
  • Holoprosencephaly 111 test
  • Holoprosencephaly 21 test
  • Holoprosencephaly 31 test
  • Holoprosencephaly 41 test
  • Holoprosencephaly 51 test
  • Holoprosencephaly 71 test
  • Holoprosencephaly 92 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency2 tests
  • Huntington disease1 test
  • Huntington disease-like 21 test
  • Hurler syndrome1 test
  • Hutchinson-Gilford syndrome1 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 21 test
  • Hypercholesterolemia, familial, 11 test
  • Hyperekplexia 12 tests
  • Hyperekplexia 22 tests
  • Hyperekplexia 32 tests
  • Hyperinsulinemic hypoglycemia, familial, 12 tests
  • Hyperinsulinemic hypoglycemia, familial, 41 test
  • Hyperinsulinism due to glucokinase deficiency3 tests
  • Hyperinsulinism-hyperammonemia syndrome1 test
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase1 test
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Hypertrophic cardiomyopathy 11 test
  • Hypertrophic cardiomyopathy 251 test
  • Hypochondroplasia1 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 10 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 11 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 12 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 14 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 15 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 16 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 17 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 18 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 19 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 20 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 21 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 22 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 3 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 4 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 5 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 6 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 8 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 9 with or without anosmia1 test
  • Hypokalemic periodic paralysis, type 12 tests
  • Hypokalemic periodic paralysis, type 22 tests
  • Hypomyelinating leukodystrophy 111 test
  • Hypomyelinating leukodystrophy 121 test
  • Hypomyelinating leukodystrophy 42 tests
  • Hypomyelinating leukodystrophy 62 tests
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1 test
  • Hypomyelination with brain stem and spinal cord involvement and leg spasticity1 test
  • Hypophosphatemic rickets, autosomal recessive, 11 test
  • Hypophosphatemic rickets, autosomal recessive, 21 test
  • Hypophosphatemic rickets, X-linked recessive1 test
  • Hypotonia with lactic acidemia and hyperammonemia1 test
  • Hypotonia, ataxia, and delayed development syndrome1 test
  • Idiopathic basal ganglia calcification 11 test
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
  • Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1 test
  • Infantile hypophosphatasia1 test
  • Infantile neuroaxonal dystrophy1 test
  • Infantile onset spinocerebellar ataxia4 tests
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Inherited bleeding disorder, platelet-type2 tests
  • Intellectual disability, autosomal dominant 131 test
  • Intellectual disability, autosomal dominant 31 test
  • Intellectual disability, autosomal dominant 51 test
  • Intellectual disability, autosomal dominant 61 test
  • Intellectual disability, autosomal recessive 11 test
  • Intellectual disability, autosomal recessive 131 test
  • Intellectual disability, X-linked syndromic, Turner type1 test
  • Intellectual disability, X-linked, with panhypopituitarism2 tests
  • Intellectual disability-hypotonic facies syndrome, X-linked, 11 test
  • Ischemic stroke1 test
  • Isolated growth hormone deficiency type IB2 tests
  • Isolated growth hormone deficiency, type 42 tests
  • Joubert syndrome 11 test
  • Joubert syndrome 101 test
  • Joubert syndrome 141 test
  • Joubert syndrome 161 test
  • Joubert syndrome 171 test
  • Joubert syndrome 181 test
  • Joubert syndrome 21 test
  • Joubert syndrome 31 test
  • Joubert syndrome 51 test
  • Joubert syndrome 61 test
  • Joubert syndrome 71 test
  • Joubert syndrome 81 test
  • Joubert syndrome 91 test
  • Joubert syndrome with renal defect1 test
  • Juvenile myoclonic epilepsy1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile primary lateral sclerosis1 test
  • Kufor-Rakeb syndrome1 test
  • Kugelberg-Welander disease1 test
  • Lafora disease1 test
  • Laron-type isolated somatotropin defect2 tests
  • Legius syndrome1 test
  • Leigh syndrome7 tests
  • LEOPARD syndrome 11 test
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 31 test
  • Leri-Weill dyschondrosteosis1 test
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome1 test
  • Lethal tight skin contracture syndrome1 test
  • Leucine-induced hypoglycemia2 tests
  • Leukocyte adhesion deficiency 31 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1 test
  • Lewy body dementia3 tests
  • Liddle syndrome 11 test
  • Liddle syndrome 21 test
  • Linear skin defects with multiple congenital anomalies 12 tests
  • Lipoic acid synthetase deficiency2 tests
  • Lissencephaly 41 test
  • Lissencephaly 6 with microcephaly1 test
  • Lissencephaly 7 with cerebellar hypoplasia1 test
  • Lissencephaly 81 test
  • Lissencephaly due to LIS1 mutation1 test
  • Lissencephaly due to TUBA1A mutation1 test
  • Lissencephaly type 1 due to doublecortin gene mutation1 test
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
  • Long QT syndrome 131 test
  • Long QT syndrome 31 test
  • Long QT syndrome 91 test
  • Low phospholipid associated cholelithiasis1 test
  • Lower motor neuron syndrome with late-adult onset1 test
  • Lysosomal acid lipase deficiency1 test
  • Macrophage activation syndrome1 test
  • Macrothrombocytopenia, isolated, 1, autosomal dominant1 test
  • Major depressive disorder1 test
  • Malignant hyperthermia, susceptibility to, 12 tests
  • Malignant hyperthermia, susceptibility to, 52 tests
  • Mandibuloacral dysplasia with type A lipodystrophy1 test
  • Mandibuloacral dysplasia with type B lipodystrophy1 test
  • Maple syrup urine disease1 test
  • Maturity-onset diabetes of the young type 13 tests
  • Maturity-onset diabetes of the young type 101 test
  • Maturity-onset diabetes of the young type 111 test
  • Maturity-onset diabetes of the young type 132 tests
  • Maturity-onset diabetes of the young type 141 test
  • Maturity-onset diabetes of the young type 23 tests
  • Maturity-onset diabetes of the young type 33 tests
  • Maturity-onset diabetes of the young type 41 test
  • Maturity-onset diabetes of the young type 61 test
  • Maturity-onset diabetes of the young type 71 test
  • Maturity-onset diabetes of the young type 81 test
  • Maturity-onset diabetes of the young type 91 test
  • Meckel syndrome 132 tests
  • Meckel syndrome, type 11 test
  • Meckel syndrome, type 101 test
  • Meckel syndrome, type 111 test
  • Meckel syndrome, type 21 test
  • Meckel syndrome, type 31 test
  • Meckel syndrome, type 41 test
  • Meckel syndrome, type 51 test
  • Meckel syndrome, type 61 test
  • Meckel syndrome, type 81 test
  • Meckel syndrome, type 91 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Megaconial type congenital muscular dystrophy1 test
  • Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31 test
  • Merosin deficient congenital muscular dystrophy2 tests
  • Metachondromatosis1 test
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Methylmalonate semialdehyde dehydrogenase deficiency1 test
  • Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency2 tests
  • Methylmalonic acidemia due to transcobalamin receptor defect1 test
  • Methylmalonic aciduria and homocystinuria type cblF2 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2 tests
  • Methylmalonic aciduria, cblA type2 tests
  • Methylmalonic aciduria, cblB type1 test
  • Microcephalic primordial dwarfism due to RTTN deficiency1 test
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis1 test
  • Migraine, familial hemiplegic, 13 tests
  • Migraine, familial hemiplegic, 23 tests
  • Migraine, familial hemiplegic, 33 tests
  • Mirror movements 41 test
  • Mitochondrial complex 1 deficiency, nuclear type 101 test
  • Mitochondrial complex 1 deficiency, nuclear type 111 test
  • Mitochondrial complex 1 deficiency, nuclear type 121 test
  • Mitochondrial complex 1 deficiency, nuclear type 131 test
  • Mitochondrial complex 1 deficiency, nuclear type 141 test
  • Mitochondrial complex 1 deficiency, nuclear type 151 test
  • Mitochondrial complex 1 deficiency, nuclear type 161 test
  • Mitochondrial complex 1 deficiency, nuclear type 181 test
  • Mitochondrial complex 1 deficiency, nuclear type 191 test
  • Mitochondrial complex 1 deficiency, nuclear type 21 test
  • Mitochondrial complex 1 deficiency, nuclear type 211 test
  • Mitochondrial complex 1 deficiency, nuclear type 31 test
  • Mitochondrial complex 1 deficiency, nuclear type 41 test
  • Mitochondrial complex 1 deficiency, nuclear type 51 test
  • Mitochondrial complex 1 deficiency, nuclear type 61 test
  • Mitochondrial complex 1 deficiency, nuclear type 71 test
  • Mitochondrial complex 1 deficiency, nuclear type 81 test
  • Mitochondrial complex 1 deficiency, nuclear type 91 test
  • Mitochondrial complex I deficiency, nuclear type 11 test
  • Mitochondrial complex II deficiency, nuclear type 12 tests
  • Mitochondrial complex III deficiency nuclear type 11 test
  • Mitochondrial complex III deficiency nuclear type 31 test
  • Mitochondrial complex III deficiency nuclear type 41 test
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 21 test
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 31 test
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11 test
  • Mitochondrial disease8 tests
  • Mitochondrial DNA depletion syndrome5 tests
  • Mitochondrial DNA depletion syndrome 13 tests
  • Mitochondrial DNA depletion syndrome 111 test
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant3 tests
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive3 tests
  • Mitochondrial DNA depletion syndrome 131 test
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)4 tests
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 16 (hepatic type)1 test
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)2 tests
  • Mitochondrial DNA depletion syndrome 4b4 tests
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)2 tests
  • Mitochondrial DNA depletion syndrome 8a2 tests
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type)1 test
  • Mitochondrial DNA depletion syndrome 92 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria3 tests
  • Mitochondrial DNA depletion syndrome, myopathic form3 tests
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
  • Mitochondrial trifunctional protein deficiency2 tests
  • Miyoshi muscular dystrophy 11 test
  • MPDU1-congenital disorder of glycosylation1 test
  • MPI-congenital disorder of glycosylation1 test
  • Mucolipidosis type IV1 test
  • Mucopolysaccharidosis type 61 test
  • Mucopolysaccharidosis type 71 test
  • Mucopolysaccharidosis, MPS-I-H/S2 tests
  • Mucopolysaccharidosis, MPS-I-S1 test
  • Mucopolysaccharidosis, MPS-II2 tests
  • Mucopolysaccharidosis, MPS-III-A2 tests
  • Mucopolysaccharidosis, MPS-III-B2 tests
  • Mucopolysaccharidosis, MPS-III-C1 test
  • Mucopolysaccharidosis, MPS-IV-A1 test
  • Mucopolysaccharidosis, MPS-IV-B2 tests
  • Multiple acyl-CoA dehydrogenase deficiency4 tests
  • Multiple system atrophy2 tests
  • Muscle AMP deaminase deficiency1 test
  • Muscular dystrophy, limb-girdle, autosomal dominant 43 tests
  • Muscular dystrophy, limb-girdle, autosomal recessive 232 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A12 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A52 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21 test
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41 test
  • Muscular dystrophy-dystroglycanopathy type B52 tests
  • Myasthenic syndrome, congenital, 1B, fast-channel1 test
  • Myasthenic syndrome, congenital, 221 test
  • Myasthenic syndrome, congenital, 23, presynaptic1 test
  • Myasthenic syndrome, slow-channel congenital1 test
  • Myoclonic dystonia 115 tests
  • Myoclonic dystonia 261 test
  • Myoclonic epilepsy, juvenile, susceptibility to, 31 test
  • Myoclonic-astatic epilepsy1 test
  • Myofibrillar myopathy 21 test
  • Myofibrillar myopathy 31 test
  • Myopathy, centronuclear, 22 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 11 test
  • Myopathy, proximal, and ophthalmoplegia1 test
  • Myopathy, tubular aggregate, 21 test
  • Myopia 61 test
  • Myosin storage myopathy1 test
  • Myotonic dystrophy type 21 test
  • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome2 tests
  • Neonatal intrahepatic cholestasis due to citrin deficiency1 test
  • Nephronophthisis 141 test
  • Neural tube defects, folate-sensitive2 tests
  • Neuroblastoma, susceptibility to, 21 test
  • Neurodegeneration with brain iron accumulation 2B1 test
  • Neurodegeneration with brain iron accumulation 41 test
  • Neurodegeneration with brain iron accumulation 52 tests
  • Neurodegeneration with brain iron accumulation 61 test
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities1 test
  • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements1 test
  • Neuroferritinopathy1 test
  • Neurofibromatosis-Noonan syndrome1 test
  • Neuronal ceroid lipofuscinosis 11 test
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 111 test
  • Neuronal ceroid lipofuscinosis 131 test
  • Neuronal ceroid lipofuscinosis 21 test
  • Neuronal ceroid lipofuscinosis 31 test
  • Neuronal ceroid lipofuscinosis 51 test
  • Neuronal ceroid lipofuscinosis 71 test
  • Neuronal ceroid lipofuscinosis 81 test
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
  • Neuronopathy, distal hereditary motor, type 2B1 test
  • Neuronopathy, distal hereditary motor, type 5A2 tests
  • Neuropathy, congenital hypomyelinating, 22 tests
  • Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy1 test
  • Neuropathy, hereditary sensory and autonomic, type 1A1 test
  • Neuropathy, hereditary sensory, type 1D2 tests
  • Niemann-Pick disease, type A2 tests
  • Niemann-Pick disease, type B1 test
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities3 tests
  • Non-ketotic hyperglycinemia4 tests
  • Noonan syndrome 11 test
  • Noonan syndrome 111 test
  • Noonan syndrome 121 test
  • Noonan syndrome 21 test
  • Noonan syndrome 31 test
  • Noonan syndrome 41 test
  • Noonan syndrome 51 test
  • Noonan syndrome 61 test
  • Noonan syndrome 72 tests
  • Noonan syndrome 81 test
  • Noonan syndrome-like disorder with loose anagen hair 11 test
  • Noonan syndrome-like disorder with loose anagen hair 21 test
  • Norman-Roberts syndrome1 test
  • NPHP3-related Meckel-like syndrome1 test
  • Obsessive-compulsive disorder1 test
  • Ocular albinism with congenital sensorineural hearing loss1 test
  • Optic atrophy 51 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy4 tests
  • Ornithine carbamoyltransferase deficiency1 test
  • Orthostatic hypotension 13 tests
  • Osteochondritis dissecans1 test
  • Osteogenesis imperfecta type I1 test
  • Osteogenesis imperfecta type III1 test
  • Osteogenesis imperfecta with normal sclerae, dominant form1 test
  • Osteogenesis imperfecta, recessive perinatal lethal1 test
  • Osteoglophonic dysplasia1 test
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
  • Panhypopituitarism, X-linked2 tests
  • Paragangliomas 11 test
  • Paragangliomas 31 test
  • Paragangliomas 41 test
  • Paragangliomas 51 test
  • Paramyotonia congenita of Von Eulenburg2 tests
  • Parkinson disease, late-onset3 tests
  • Parkinsonism-dystonia, infantile, 21 test
  • Paroxysmal extreme pain disorder1 test
  • Paroxysmal nonkinesigenic dyskinesia 12 tests
  • PCWH syndrome1 test
  • Pendred syndrome1 test
  • Permanent neonatal diabetes mellitus1 test
  • Permanent neonatal diabetes mellitus 12 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)1 test
  • Peroxisome biogenesis disorder 1B1 test
  • Peroxisome biogenesis disorder 2A (Zellweger)1 test
  • Peroxisome biogenesis disorder 2B1 test
  • Peroxisome biogenesis disorder 3A (Zellweger)1 test
  • Peroxisome biogenesis disorder 4A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 4B2 tests
  • Peroxisome biogenesis disorder 9B1 test
  • Peroxisome biogenesis disorder type 3B1 test
  • Perrault syndrome 11 test
  • Perrault syndrome 21 test
  • Perrault syndrome 31 test
  • Perrault syndrome 41 test
  • Perrault syndrome 54 tests
  • PGM1-congenital disorder of glycosylation3 tests
  • Phenylketonuria1 test
  • Pheochromocytoma2 tests
  • Pick disease1 test
  • Pigmentary pallidal degeneration1 test
  • Pili torti-deafness syndrome1 test
  • Pituitary hormone deficiency, combined, 13 tests
  • Pituitary hormone deficiency, combined, 23 tests
  • Pituitary hormone deficiency, combined, 63 tests
  • Plasminogen deficiency, type I1 test
  • Platelet-type bleeding disorder 101 test
  • PMM2-congenital disorder of glycosylation2 tests
  • Polycystic kidney disease 23 tests
  • Polycystic kidney disease, adult type2 tests
  • Polydactyly, postaxial, type A81 test
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis1 test
  • Pontocerebellar hypoplasia type 61 test
  • Porphobilinogen synthase deficiency1 test
  • Portal hypertension, noncirrhotic1 test
  • Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1 test
  • Potassium-aggravated myotonia2 tests
  • Prader-Willi syndrome1 test
  • Preaxial hand polydactyly1 test
  • Primary coenzyme Q10 deficiency 82 tests
  • Primary erythromelalgia1 test
  • Progressive demyelinating neuropathy with bilateral striatal necrosis2 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 14 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 22 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 34 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 43 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 53 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 16 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 32 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 41 test
  • Progressive familial heart block, type 1A1 test
  • Progressive familial intrahepatic cholestasis type 21 test
  • Progressive familial intrahepatic cholestasis type 31 test
  • Progressive sclerosing poliodystrophy3 tests
  • Progressive supranuclear palsy-parkinsonism syndrome1 test
  • Pseudohyperaldosteronism type 21 test
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency2 tests
  • Pyridoxal phosphate-responsive seizures2 tests
  • Pyridoxine-dependent epilepsy2 tests
  • Pyruvate carboxylase deficiency2 tests
  • Pyruvate dehydrogenase E1-alpha deficiency4 tests
  • Pyruvate dehydrogenase E1-beta deficiency2 tests
  • Pyruvate dehydrogenase E2 deficiency2 tests
  • Pyruvate dehydrogenase E3 deficiency2 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency1 test
  • Pyruvate dehydrogenase phosphatase deficiency2 tests
  • Radial aplasia-thrombocytopenia syndrome1 test
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
  • Renal carnitine transport defect2 tests
  • Renal cysts and diabetes syndrome3 tests
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
  • Retinitis pigmentosa 591 test
  • Rett syndrome4 tests
  • RFT1-congenital disorder of glycosylation1 test
  • Rippling muscle disease 21 test
  • Roussy-Lévy syndrome5 tests
  • Salla disease2 tests
  • Schizophrenia1 test
  • Secondary hemophagocytic lymphohistiocytosis1 test
  • Seizures, benign familial neonatal, 13 tests
  • Selective pituitary resistance to thyroid hormone1 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
  • Septo-optic dysplasia sequence3 tests
  • Severe intellectual disability-progressive spastic diplegia syndrome1 test
  • Severe myoclonic epilepsy in infancy6 tests
  • Severe neonatal-onset encephalopathy with microcephaly4 tests
  • Severe X-linked mitochondrial encephalomyopathy2 tests
  • Severe X-linked myotubular myopathy3 tests
  • Short stature due to growth hormone secretagogue receptor deficiency2 tests
  • Short stature due to partial GHR deficiency2 tests
  • Short stature due to primary acid-labile subunit deficiency1 test
  • Short stature with nonspecific skeletal abnormalities1 test
  • Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome2 tests
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome3 tests
  • SHOX-related short stature1 test
  • Sialic acid storage disease, severe infantile type2 tests
  • Sialuria1 test
  • Sick sinus syndrome 11 test
  • Silver-Russell syndrome 31 test
  • Simpson-Golabi-Behmel syndrome type 11 test
  • Somatotroph adenoma1 test
  • Spastic ataxia 51 test
  • Spinal muscular atrophy, type II1 test
  • Spinal muscular atrophy, type IV1 test
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
  • Spinocerebellar ataxia 73 tests
  • Spinocerebellar ataxia type 13 tests
  • Spinocerebellar ataxia type 104 tests
  • Spinocerebellar ataxia type 124 tests
  • Spinocerebellar ataxia type 174 tests
  • Spinocerebellar ataxia type 23 tests
  • Spinocerebellar ataxia type 281 test
  • Spinocerebellar ataxia type 364 tests
  • Spinocerebellar ataxia type 63 tests
  • Spinocerebellar ataxia type 84 tests
  • Spondyloepimetaphyseal dysplasia, aggrecan type1 test
  • Spondyloepiphyseal dysplasia congenita1 test
  • SRD5A3-congenital disorder of glycosylation1 test
  • SSR4-congenital disorder of glycosylation1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Stickler syndrome type 11 test
  • Stickler syndrome type 22 tests
  • Stickler syndrome, type 42 tests
  • Stickler syndrome, type 52 tests
  • Stickler syndrome, type I, nonsyndromic ocular2 tests
  • Stormorken syndrome1 test
  • STT3A-congenital disorder of glycosylation1 test
  • STT3B-congenital disorder of glycosylation1 test
  • Succinate-semialdehyde dehydrogenase deficiency2 tests
  • Succinyl-CoA acetoacetate transferase deficiency1 test
  • SUDDEN INFANT DEATH SYNDROME1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C3 tests
  • Syndromic X-linked intellectual disability Lubs type4 tests
  • Tay-Sachs disease2 tests
  • Thanatophoric dysplasia type 11 test
  • Thrombocythemia 11 test
  • Thrombocytopenia 21 test
  • Thrombocytopenia 41 test
  • Thrombocytopenia 51 test
  • Thrombocytopenia, X-linked, intermittent1 test
  • Thrombotic microangiopathy1 test
  • Thrombotic thrombocytopenic purpura2 tests
  • Thyroid hormone resistance, generalized, autosomal dominant1 test
  • Thyroid hormone resistance, generalized, autosomal recessive1 test
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • Tobacco addiction, susceptibility to1 test
  • Torsion dystonia 21 test
  • Torsion dystonia 42 tests
  • Torsion dystonia 61 test
  • Transcobalamin II deficiency2 tests
  • Treacher Collins syndrome 11 test
  • Treacher Collins syndrome 21 test
  • Treacher Collins syndrome 31 test
  • Tremor, hereditary essential, 11 test
  • Tuberous sclerosis 11 test
  • Tuberous sclerosis 21 test
  • Type 1 diabetes mellitus 203 tests
  • Type 2 diabetes mellitus4 tests
  • Tyrosinemia type I1 test
  • Tyrosinemia type II1 test
  • Tyrosinemia type III1 test
  • Usher syndrome type 11 test
  • Usher syndrome type 1C1 test
  • Usher syndrome type 1D1 test
  • Usher syndrome type 1F1 test
  • Usher syndrome type 1J1 test
  • Usher syndrome type 2A1 test
  • Usher syndrome type 2C1 test
  • Usher syndrome type 2D1 test
  • Usher syndrome type 31 test
  • Usher syndrome type 3B1 test
  • Vanishing white matter disease6 tests
  • Variegate porphyria1 test
  • Ventricular fibrillation, paroxysmal familial, type 11 test
  • Ventriculomegaly-cystic kidney disease1 test
  • Very long chain acyl-CoA dehydrogenase deficiency3 tests
  • Vitamin D hydroxylation-deficient rickets, type 1B1 test
  • Vitamin D-dependent rickets type II with alopecia1 test
  • Vitamin D-dependent rickets, type 1A1 test
  • von Willebrand disorder2 tests
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 2A1 test
  • Waardenburg syndrome type 2D1 test
  • Waardenburg syndrome type 2E2 tests
  • Waardenburg syndrome type 31 test
  • Waardenburg syndrome type 4A1 test
  • Waardenburg syndrome type 4B1 test
  • Waardenburg syndrome type 4C2 tests
  • Weill-Marchesani syndrome 2, dominant1 test
  • Werdnig-Hoffmann disease1 test
  • X-linked agammaglobulinemia2 tests
  • X-linked agammaglobulinemia with growth hormone deficiency2 tests
  • X-linked Alport syndrome1 test
  • X-linked dystonia-parkinsonism1 test
  • X-linked Emery-Dreifuss muscular dystrophy1 test
  • X-linked hydrocephalus syndrome1 test
  • X-linked intellectual disability-psychosis-macroorchidism syndrome4 tests
  • X-linked lissencephaly with abnormal genitalia2 tests
  • X-linked sideroblastic anemia with ataxia1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Sequence Analysis
  • Carrier testing
  • Result interpretation
  • Whole Exome Sequencing
  • Whole Genome Sequencing

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 11D0703390, Expiration date: 2024-06-07
  • CAP, Number: 1441004, Expiration date: 2024-03-11

Licenses

  • CA - California Department of Public Health CDPH, Number: COS 00800363, Expiration date: 2023-02-28
  • GA - Georgia Department of Community Health DCH, Number: 060-381, Effective date: 2019-04-30 Non-expiring
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1241, Effective date: 2020-01-01 Non-expiring
  • NY - New York State Department of Health NYSDOH, Number: 8159, Expiration date: 2023-06-30
  • PA - Pennsylvania Department of Health PADOH, Number: 33840, Expiration date: 2023-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO01166, Expiration date: 2023-12-30

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.