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

MNG Laboratories (Medical Neurogenetics, LLC.)

GTR Lab ID: 303161, Last updated:2021-08-20

Personnel

  • Director: Geraldine McDowell, PhD, FACMG, Lab Director
    Phone: 678-225-0222
    Fax: 678-225-0212
    Email: MNGquickresponse@labcorp.com
  • Director: Hussain Askree, PhD, ABMG, DABMG, 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 with deafness, encephalopathy, and Leigh-like syndrome1 test
  • 3-methylglutaconic aciduria, type VIII1 test
  • Abortive cerebellar ataxia3 tests
  • ABri amyloidosis1 test
  • Achondrogenesis type II1 test
  • Achondrogenesis, type IB1 test
  • Achondroplasia1 test
  • Acid-labile subunit deficiency1 test
  • Acquired hemoglobin H disease1 test
  • Acrocallosal syndrome1 test
  • Acrocapitofemoral dysplasia1 test
  • Acromicric dysplasia1 test
  • Acute intermittent porphyria1 test
  • Acyl-CoA dehydrogenase family, member 9, deficiency of1 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
  • Albinism, ocular, with sensorineural deafness1 test
  • Alexander Disease1 test
  • ALG1-CDG1 test
  • ALG12-congenital disorder of glycosylation1 test
  • ALG2-CDG1 test
  • ALG3-CDG1 test
  • ALG8-CDG1 test
  • ALG9 congenital disorder of glycosylation1 test
  • alpha Thalassemia3 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome1 test
  • Alpha-B crystallinopathy1 test
  • Alport syndrome 1, X-linked recessive1 test
  • Alport syndrome 3, autosomal dominant1 test
  • Alport syndrome, autosomal recessive1 test
  • Alternating hemiplegia of childhood1 test
  • Alternating hemiplegia of childhood 14 tests
  • Alternating hemiplegia of childhood 21 test
  • Alzheimer disease1 test
  • Alzheimer disease 21 test
  • Alzheimer disease, type 32 tests
  • Alzheimer disease, type 42 tests
  • Alzheimer disease, type 92 tests
  • Amish lethal microcephaly2 tests
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyotrophic lateral sclerosis1 test
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia1 test
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia1 test
  • Amyotrophic lateral sclerosis 16, juvenile1 test
  • Amyotrophic lateral sclerosis 171 test
  • Amyotrophic lateral sclerosis 181 test
  • Amyotrophic lateral sclerosis 191 test
  • Amyotrophic lateral sclerosis 201 test
  • Amyotrophic lateral sclerosis 211 test
  • Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia1 test
  • Amyotrophic lateral sclerosis and/or frontotemporal dementia 11 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 2, juvenile1 test
  • Amyotrophic lateral sclerosis type 41 test
  • Amyotrophic lateral sclerosis type 52 tests
  • Amyotrophic lateral sclerosis type 81 test
  • Amyotrophic lateral sclerosis type 91 test
  • Amyotrophic lateral sclerosis-parkinsonism-dementia complex1 test
  • Amyotrophy, hereditary neuralgic1 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
  • Arrhythmogenic right ventricular cardiomyopathy, type 111 test
  • Arrhythmogenic right ventricular dysplasia 91 test
  • Arrhythmogenic right ventricular dysplasia, familial 11 test
  • Arthrogryposis, mental retardation, and seizures1 test
  • Ataxia-oculomotor apraxia type 11 test
  • Ateleiotic dwarfism2 tests
  • Atrial fibrillation, familial, 101 test
  • Atrial fibrillation, familial, 131 test
  • Atrioventricular septal defect 21 test
  • Attention deficit hyperactivity disorder1 test
  • Attention deficit-hyperactivity disorder 71 test
  • Atypical hemolytic uremic syndrome1 test
  • Autism 171 test
  • Autism, susceptibility to, X-linked 34 tests
  • Autosomal dominant isolated somatotropin deficiency2 tests
  • Autosomal dominant macrothrombocytopenia TUBB1-related1 test
  • Autosomal dominant nonsyndromic deafness 171 test
  • Autosomal dominant optic atrophy classic form3 tests
  • Autosomal dominant osteopetrosis 11 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 16 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 22 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 35 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 44 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 54 tests
  • Autosomal dominant pseudohypoaldosteronism type 11 test
  • Autosomal dominant torsion dystonia 42 tests
  • Autosomal recessive DOPA responsive dystonia3 tests
  • Autosomal recessive hypophosphatemic vitamin D refractory rickets1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
  • 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 pseudohypoaldosteronism type 11 test
  • Azorean disease3 tests
  • Bamforth-Lazarus syndrome1 test
  • Bardet-Biedl syndrome 11 test
  • Bartter disease type 4a2 tests
  • Bartter syndrome type 33 tests
  • Bartter syndrome, type 1, antenatal1 test
  • Bartter syndrome, type 2, antenatal4 tests
  • Bartter syndrome, type 4b4 tests
  • Basal ganglia calcification, idiopathic, 41 test
  • Basal ganglia calcification, idiopathic, 61 test
  • Becker muscular dystrophy2 tests
  • Benign familial neonatal seizures1 test
  • Benign familial neonatal seizures 14 tests
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
  • Bernard Soulier syndrome1 test
  • beta Thalassemia2 tests
  • Beta-D-mannosidosis1 test
  • Bethlem myopathy 11 test
  • BH4-deficient hyperphenylalaninemia A3 tests
  • Blepharospasm1 test
  • Bloom syndrome1 test
  • Brachydactyly type A11 test
  • Bruck syndrome 21 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 deficiency2 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 palmitoyltransferase 1A deficiency1 test
  • Carnitine palmitoyltransferase II deficiency, infantile2 tests
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal2 tests
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced2 tests
  • Catecholaminergic polymorphic ventricular tachycardia type 11 test
  • Central core myopathy3 tests
  • Cerebral amyloid angiopathy, APP-related3 tests
  • Cerebral cavernous malformation1 test
  • Cerebral cavernous malformations 21 test
  • Cerebral cavernous malformations 31 test
  • Cerebral folate transport deficiency5 tests
  • Cerebral palsy, spastic quadriplegic, 11 test
  • Ceroid lipofuscinosis neuronal 21 test
  • Ceroid lipofuscinosis, neuronal, 111 test
  • Ceroid lipofuscinosis, neuronal, 131 test
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant1 test
  • Charcot-Marie-Tooth disease and deafness3 tests
  • Charcot-Marie-Tooth disease axonal type 2F1 test
  • Charcot-Marie-Tooth disease dominant intermediate d2 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, axonal type 2X1 test
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1b2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1f1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 4F1 test
  • Charcot-Marie-Tooth disease, dominant intermediate G1 test
  • Charcot-Marie-Tooth disease, type 1C1 test
  • Charcot-Marie-Tooth disease, type 2A2A2 tests
  • Charcot-Marie-Tooth disease, type 4k1 test
  • Charcot-Marie-Tooth disease, type IA3 tests
  • Charcot-Marie-Tooth Neuropathy X Type 13 tests
  • CHARGE association1 test
  • Childhood hypophosphatasia1 test
  • Childhood-onset epilepsy syndrome1 test
  • Citrullinemia type I1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
  • Cobalamin C disease2 tests
  • Coenzyme Q10 deficiency, primary1 test
  • Coenzyme Q10 deficiency, primary 12 tests
  • Coenzyme Q10 deficiency, primary, 21 test
  • Coenzyme Q10 deficiency, primary, 31 test
  • Coenzyme Q10 deficiency, primary, 41 test
  • Coenzyme Q10 deficiency, primary, 52 tests
  • Coenzyme Q10 deficiency, primary, 62 tests
  • Coenzyme Q10 deficiency, primary, 72 tests
  • Coenzyme Q10 deficiency, primary, 82 tests
  • Cold-induced sweating syndrome 11 test
  • Combined deficiency of sialidase AND beta galactosidase1 test
  • Combined oxidative phosphorylation deficiency 12 tests
  • Combined oxidative phosphorylation deficiency 101 test
  • Combined oxidative phosphorylation deficiency 111 test
  • Combined oxidative phosphorylation deficiency 121 test
  • Combined oxidative phosphorylation deficiency 131 test
  • Combined oxidative phosphorylation deficiency 141 test
  • Combined oxidative phosphorylation deficiency 151 test
  • Combined oxidative phosphorylation deficiency 161 test
  • Combined oxidative phosphorylation deficiency 171 test
  • Combined oxidative phosphorylation deficiency 181 test
  • Combined oxidative phosphorylation deficiency 191 test
  • Combined oxidative phosphorylation deficiency 22 tests
  • Combined oxidative phosphorylation deficiency 201 test
  • Combined oxidative phosphorylation deficiency 211 test
  • Combined oxidative phosphorylation deficiency 231 test
  • Combined oxidative phosphorylation deficiency 241 test
  • Combined oxidative phosphorylation deficiency 251 test
  • Combined oxidative phosphorylation deficiency 271 test
  • Combined oxidative phosphorylation deficiency 281 test
  • Combined oxidative phosphorylation deficiency 291 test
  • Combined oxidative phosphorylation deficiency 31 test
  • Combined oxidative phosphorylation deficiency 301 test
  • Combined oxidative phosphorylation deficiency 321 test
  • Combined oxidative phosphorylation deficiency 391 test
  • Combined oxidative phosphorylation deficiency 42 tests
  • Combined oxidative phosphorylation deficiency 442 tests
  • Combined oxidative phosphorylation deficiency 51 test
  • Combined oxidative phosphorylation deficiency 62 tests
  • Combined oxidative phosphorylation deficiency 71 test
  • Combined oxidative phosphorylation deficiency 81 test
  • Combined oxidative phosphorylation deficiency 91 test
  • Congenital brain dysgenesis due to glutamine synthetase deficiency2 tests
  • Congenital central hypoventilation1 test
  • Congenital disorder of glycosylation type 1C1 test
  • Congenital disorder of glycosylation type 1E1 test
  • Congenital disorder of glycosylation type 1M1 test
  • Congenital disorder of glycosylation type 1N1 test
  • Congenital disorder of glycosylation type 1O1 test
  • Congenital disorder of glycosylation type 1P1 test
  • Congenital disorder of glycosylation type 1Q1 test
  • Congenital disorder of glycosylation type 1t3 tests
  • Congenital disorder of glycosylation type 1u1 test
  • Congenital disorder of glycosylation type 1w1 test
  • Congenital disorder of glycosylation type 1x1 test
  • Congenital disorder of glycosylation type 1y1 test
  • Congenital disorder of glycosylation type Ir1 test
  • Congenital disorder of glycosylation, type Ia4 tests
  • Congenital disorder of glycosylation, type ICC1 test
  • Congenital dyserythropoietic anemia1 test
  • Congenital hyperammonemia, type I1 test
  • Congenital hypomyelinating neuropathy 22 tests
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2 tests
  • Congenital muscular dystrophy, LMNA-related1 test
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B52 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A52 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A21 test
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A41 test
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B11 test
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B21 test
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B41 test
  • Congenital muscular hypertrophy-cerebral syndrome1 test
  • Congenital myasthenic syndrome 121 test
  • Congenital myasthenic syndrome 1B, fast-channel1 test
  • Congenital myasthenic syndrome 3B1 test
  • Congenital myasthenic syndrome 4C1 test
  • Congenital myasthenic syndrome, acetazolamide-responsive3 tests
  • Congenital myopathy with fiber type disproportion1 test
  • Congenital myotonia, autosomal dominant form2 tests
  • Congenital myotonia, autosomal recessive form2 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
  • Cortical dysplasia, complex, with other brain malformations1 test
  • Corticosterone 18-monooxygenase deficiency1 test
  • Corticosterone methyloxidase type 2 deficiency1 test
  • Creatine transporter deficiency3 tests
  • Culler-Jones syndrome1 test
  • Cutis laxa with osteodystrophy1 test
  • Cystathioninuria1 test
  • Cystic fibrosis2 tests
  • D-2-hydroxyglutaric aciduria 11 test
  • Danon disease1 test
  • Deafness dystonia syndrome1 test
  • Deafness, autosomal dominant 691 test
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct1 test
  • Deafness, X-linked 61 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 iodide peroxidase1 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
  • Diabetes mellitus, insulin-dependent, 203 tests
  • Dihydropteridine reductase deficiency3 tests
  • Dihydropyrimidinase deficiency1 test
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy 1A1 test
  • Dilated cardiomyopathy 1C2 tests
  • Dilated cardiomyopathy 1E1 test
  • Dilated cardiomyopathy 1GG1 test
  • Dilated cardiomyopathy 1L3 tests
  • Dilated cardiomyopathy 1R1 test
  • Dilated cardiomyopathy 1S1 test
  • Dilated cardiomyopathy 1X1 test
  • Dilated cardiomyopathy 3B1 test
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
  • Distal arthrogryposis type 2B1 test
  • Distal hereditary motor neuronopathy type 2B1 test
  • Distal hereditary motor neuronopathy type 52 tests
  • Distal myopathy, Tateyama type1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency3 tests
  • DPAGT1-CDG1 test
  • Duchenne muscular dystrophy2 tests
  • Dysplasminogenemia1 test
  • Dystonia 121 test
  • Dystonia 161 test
  • Dystonia 241 test
  • Dystonia 251 test
  • Dystonia 26, myoclonic1 test
  • Dystonia 55 tests
  • Dystonia 94 tests
  • Early infantile epileptic encephalopathy 111 test
  • Early infantile epileptic encephalopathy 21 test
  • Early infantile epileptic encephalopathy 42 tests
  • Early infantile epileptic encephalopathy 51 test
  • Early infantile epileptic encephalopathy 75 tests
  • Early infantile epileptic encephalopathy 83 tests
  • Early infantile epileptic encephalopathy 92 tests
  • Early myoclonic encephalopathy1 test
  • Early-onset autosomal dominant Alzheimer disease1 test
  • EAST syndrome1 test
  • Eichsfeld type congenital muscular dystrophy1 test
  • Elevated serum creatine phosphokinase1 test
  • Ellis-van Creveld syndrome1 test
  • Emery-Dreifuss muscular dystrophy 1, X-linked1 test
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 11 test
  • Encephalopathy, acute, infection-induced, 4, susceptibility to1 test
  • Endplate acetylcholinesterase deficiency1 test
  • Epilepsy, childhood absence 11 test
  • Epilepsy, early-onset, vitamin b6-dependent2 tests
  • Epilepsy, familial adult myoclonic, 51 test
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, idiopathic generalized 102 tests
  • Epilepsy, idiopathic generalized 71 test
  • Epilepsy, idiopathic generalized 92 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 111 test
  • Epilepsy, idiopathic generalized, susceptibility to, 126 tests
  • Epilepsy, juvenile myoclonic 51 test
  • Epilepsy, progressive myoclonic 4, with or without renal failure1 test
  • Epileptic encephalopathy, early infantile, 12 tests
  • Epileptic encephalopathy, early infantile, 361 test
  • Epileptic encephalopathy, early infantile, 424 tests
  • Epileptic encephalopathy, early infantile, 522 tests
  • Epileptic encephalopathy, infantile or early childhood1 test
  • Epiphyseal dysplasia, multiple, 31 test
  • Episodic ataxia type 11 test
  • Episodic ataxia type 23 tests
  • Episodic ataxia, type 51 test
  • Episodic ataxia, type 61 test
  • Episodic pain syndrome, familial, 22 tests
  • Episodic pain syndrome, familial, 32 tests
  • Erythrocytosis, familial, 71 test
  • 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 episodic pain syndrome 11 test
  • Familial hemiplegic migraine type 14 tests
  • Familial hemiplegic migraine type 24 tests
  • Familial hemiplegic migraine type 33 tests
  • Familial hemophagocytic lymphohistiocytosis2 tests
  • Familial hyperaldosteronism type 31 test
  • Familial hypercholesterolemia 12 tests
  • Familial hypercholesterolemia 21 test
  • Familial hypercholesterolemia 31 test
  • Familial hypercholesterolemia 41 test
  • Familial hyperkalemic periodic paralysis2 tests
  • Familial hypertrophic cardiomyopathy 11 test
  • Familial hypokalemia-hypomagnesemia5 tests
  • Familial infantile myasthenia2 tests
  • Familial Mediterranean fever1 test
  • Familial partial lipodystrophy 21 test
  • Familial platelet disorder with associated myeloid malignancy1 test
  • Familial porphyria cutanea tarda1 test
  • Familial visceral amyloidosis, Ostertag type1 test
  • Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
  • Fanconi renotubular syndrome 12 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young3 tests
  • Fatal infantile hypertonic myofibrillar myopathy1 test
  • Fetal akinesia deformation sequence 31 test
  • Fibrochondrogenesis 11 test
  • Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement1 test
  • Floating-Harbor syndrome1 test
  • Focal epilepsy-intellectual disability-cerebro-cerebellar malformation1 test
  • Focal segmental glomerulosclerosis 91 test
  • Fragile X syndrome3 tests
  • Fragile X tremor/ataxia syndrome1 test
  • Friedreich ataxia 13 tests
  • Frontotemporal dementia4 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 31 test
  • Fructose-biphosphatase deficiency1 test
  • Fumarase deficiency1 test
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Gamma-aminobutyric acid transaminase deficiency1 test
  • Gastrointestinal stromal tumor2 tests
  • Gaucher disease type 3C1 test
  • Gaucher disease type I2 tests
  • Gaucher disease type II1 test
  • Gaucher disease type III1 test
  • Gaucher disease, perinatal lethal1 test
  • Generalized epilepsy with febrile seizures plus, type 13 tests
  • Generalized epilepsy with febrile seizures plus, type 24 tests
  • Generalized epilepsy with febrile seizures plus, type 72 tests
  • Glanzmann thrombasthenia1 test
  • Glaucoma, normal tension, susceptibility to3 tests
  • GLUT1 deficiency syndrome1 test
  • GLUT1 deficiency syndrome 16 tests
  • GLUT1 deficiency syndrome 27 tests
  • Glutaric aciduria, type 12 tests
  • Glutaryl-CoA oxidase deficiency1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA4 tests
  • Glycogen storage disease due to hepatic glycogen synthase deficiency1 test
  • Glycogen storage disease type III1 test
  • Glycogen storage disease type IXa11 test
  • Glycogen storage disease type X1 test
  • Glycogen storage disease, type II5 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
  • GNE myopathy1 test
  • GRACILE syndrome2 tests
  • Gray platelet 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
  • Growth restriction, severe, with distinctive facies1 test
  • GTP cyclohydrolase I deficiency4 tests
  • Guillain-Barre syndrome, familial3 tests
  • Hartsfield syndrome1 test
  • Heart-hand syndrome, Slovenian type1 test
  • Heimler syndrome 11 test
  • Heimler syndrome 22 tests
  • Heinz body anemia1 test
  • Hemoglobin H disease1 test
  • Hemophagocytic syndrome1 test
  • Hemophilia2 tests
  • Hemorrhage, intracerebral, susceptibility to1 test
  • Hepatic methionine adenosyltransferase deficiency1 test
  • Hereditary cerebral amyloid angiopathy, Icelandic type1 test
  • Hereditary disease7 tests
  • Hereditary essential tremor 11 test
  • 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 neuropathy type 1D2 tests
  • Hereditary spastic paraplegia 131 test
  • Hereditary spastic paraplegia 3A2 tests
  • Hereditary spastic paraplegia 71 test
  • Hereditary thrombophilia1 test
  • Heterotaxy, visceral, 1, X-linked1 test
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotaxy, visceral, 6, autosomal1 test
  • Heterotaxy, visceral, 7, autosomal1 test
  • Heterotaxy, visceral, 8, autosomal1 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, congenital, 2, with or without brain or eye anomalies1 test
  • Hyperaldosteronism, familial, type I1 test
  • Hyperekplexia1 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 s-adenosylhomocysteine hydrolase deficiency1 test
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Hyperphenylalaninemia, BH4-deficient, D2 tests
  • Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy1 test
  • Hypertrophic cardiomyopathy 251 test
  • Hypochondroplasia1 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1 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 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 12 tests
  • Hypokalemic periodic paralysis, type 22 tests
  • Hypomyelinating leukodystrophy 71 test
  • Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1 test
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity1 test
  • Hypophosphatemic rickets, autosomal recessive, 21 test
  • Hypophosphatemic rickets, X-linked recessive1 test
  • Hypothyroidism, congenital, nongoitrous, 12 tests
  • Hypothyroidism, congenital, nongoitrous, 22 tests
  • Hypothyroidism, congenital, nongoitrous, 52 tests
  • Hypothyroidism, congenital, nongoitrous, 62 tests
  • Hypothyroidism, congenital, nongoitrous, 71 test
  • Hypotonia, ataxia, and delayed development syndrome1 test
  • Idiopathic basal ganglia calcification 11 test
  • Idiopathic basal ganglia calcification 51 test
  • Idiopathic generalized epilepsy1 test
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11 test
  • Indifference to pain, congenital, autosomal recessive2 tests
  • Infantile glycine encephalopathy1 test
  • Infantile hypophosphatasia1 test
  • Infantile neuroaxonal dystrophy1 test
  • Infantile onset spinocerebellar ataxia5 tests
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Intellectual disability, X-linked syndromic, Turner type1 test
  • Iodotyrosine deiodination defect1 test
  • Iodotyrosyl coupling defect1 test
  • Ischemic stroke, susceptibility to1 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 41 test
  • Joubert syndrome 52 tests
  • Joubert syndrome 61 test
  • Joubert syndrome 71 test
  • Joubert syndrome 81 test
  • Joubert syndrome 91 test
  • Juvenile myoclonic epilepsy2 tests
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile primary lateral sclerosis1 test
  • Kallmann syndrome 33 tests
  • Kufor-Rakeb syndrome1 test
  • Kugelberg-Welander disease1 test
  • Lactate dehydrogenase B deficiency1 test
  • Lafora disease1 test
  • Laron-type isolated somatotropin defect2 tests
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 61 test
  • Left ventricular noncompaction 71 test
  • Left ventricular noncompaction 81 test
  • Legius syndrome1 test
  • Leigh syndrome8 tests
  • LEOPARD syndrome 11 test
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 31 test
  • Leri-Weill dyschondrosteosis1 test
  • Lethal tight skin contracture syndrome1 test
  • Leucine-induced hypoglycemia2 tests
  • Leukocyte adhesion deficiency, type III1 test
  • Leukodystrophy, hypomyelinating, 111 test
  • Leukodystrophy, hypomyelinating, 121 test
  • Leukodystrophy, hypomyelinating, 42 tests
  • Leukodystrophy, hypomyelinating, 62 tests
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
  • Leukoencephalopathy with vanishing white matter6 tests
  • Lewy body dementia3 tests
  • Liddle syndrome 11 test
  • Liddle syndrome 21 test
  • Limb-girdle muscular dystrophy, type 2A3 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C11 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C21 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C41 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C52 tests
  • Linear skin defects with multiple congenital anomalies 12 tests
  • Lissencephaly 2, X-linked2 tests
  • Lissencephaly 31 test
  • Lissencephaly 41 test
  • Lissencephaly 51 test
  • Lissencephaly 6, with microcephaly1 test
  • Lissencephaly 7 with cerebellar hypoplasia1 test
  • Lissencephaly 81 test
  • Lissencephaly due to LIS1 mutation1 test
  • Lissencephaly, X-linked1 test
  • Long QT syndrome 131 test
  • Long QT syndrome 31 test
  • Long QT syndrome 91 test
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
  • Low phospholipid associated cholelithiasis1 test
  • Lysosomal acid lipase deficiency1 test
  • Macrophage activation syndrome1 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
  • Maple syrup urine disease, 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
  • 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
  • Meckel syndrome 121 test
  • Meckel syndrome 132 tests
  • Meckel syndrome type 11 test
  • Meckel syndrome type 61 test
  • Meckel syndrome type 71 test
  • Meckel syndrome type 81 test
  • Meckel syndrome, type 101 test
  • Meckel syndrome, type 111 test
  • Meckel syndrome, type 21 test
  • Meckel syndrome, type 31 test
  • Meckel syndrome, type 42 tests
  • Meckel syndrome, type 51 test
  • Meckel syndrome, type 91 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
  • 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
  • Megaloblastic anemia due to dihydrofolate reductase deficiency2 tests
  • Mental retardation with panhypopituitarism, X-linked2 tests
  • Mental retardation, autosomal dominant 131 test
  • Mental retardation, autosomal dominant 191 test
  • Mental retardation, autosomal dominant 31 test
  • Mental retardation, autosomal dominant 51 test
  • Mental retardation, autosomal dominant 61 test
  • Mental retardation, autosomal recessive 11 test
  • Mental retardation, autosomal recessive 131 test
  • Mental retardation, autosomal recessive 491 test
  • Mental retardation, X-linked, syndromic 134 tests
  • Mental retardation, X-linked, syndromic, Hedera type1 test
  • Merosin deficient congenital muscular dystrophy2 tests
  • Metachondromatosis1 test
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Methemoglobinemia, alpha type1 test
  • Methylmalonate semialdehyde dehydrogenase deficiency1 test
  • Methylmalonic aciduria and homocystinuria type cblF2 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2 tests
  • Methylmalonic aciduria due to transcobalamin receptor defect1 test
  • Methylmalonyl-CoA epimerase deficiency2 tests
  • Microcephaly, short stature, and polymicrogyria with or without seizures1 test
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis1 test
  • Minicore myopathy with external ophthalmoplegia4 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 IV deficiency5 tests
  • Mitochondrial diseases8 tests
  • Mitochondrial DNA depletion syndrome5 tests
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)4 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 13 (encephalomyopathic type)1 test
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)4 tests
  • Mitochondrial DNA depletion syndrome 16 (hepatic type)1 test
  • Mitochondrial DNA depletion syndrome 23 tests
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type5 tests
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)3 tests
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type)1 test
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)2 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy2 tests
  • Mitochondrial DNA depletion syndrome, hepatocerebral form1 test
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral2 tests
  • Mitochondrial trifunctional protein deficiency2 tests
  • Miyoshi muscular dystrophy 11 test
  • Molybdenum cofactor deficiency, complementation group C3 tests
  • Mowat-Wilson syndrome1 test
  • MPDU1-CDG1 test
  • MPI-CDG1 test
  • Mucopolysaccharidosis type 61 test
  • Mucopolysaccharidosis type 72 tests
  • 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, 12 tests
  • Myasthenia, limb-girdle, familial2 tests
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, 141 test
  • Myasthenic syndrome, congenital, 171 test
  • Myasthenic syndrome, congenital, 181 test
  • Myasthenic syndrome, congenital, 191 test
  • Myasthenic syndrome, congenital, 20, presynaptic1 test
  • Myasthenic syndrome, congenital, 221 test
  • Myasthenic syndrome, congenital, 23, presynaptic1 test
  • Myasthenic syndrome, congenital, 2a, slow-channel1 test
  • Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, 3a, slow-channel1 test
  • Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, 4a, slow-channel1 test
  • Myasthenic syndrome, congenital, 4b, fast-channel1 test
  • Myasthenic syndrome, congenital, 7, presynaptic1 test
  • Myasthenic syndrome, congenital, 81 test
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, slow-channel congenital1 test
  • Myoclonic dystonia 115 tests
  • Myoclonic epilepsy, familial infantile1 test
  • Myoclonic epilepsy, juvenile 31 test
  • Myoclonic-atonic epilepsy1 test
  • Myofibrillar myopathy 31 test
  • Myopathy, centronuclear, 22 tests
  • Myopathy, congenital, compton-north1 test
  • Myopathy, distal, with anterior tibial onset1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 11 test
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay1 test
  • Myopathy, proximal, and ophthalmoplegia2 tests
  • Myopathy, tubular aggregate, 21 test
  • Myopia 61 test
  • Myosin storage myopathy1 test
  • Myotonic dystrophy type 21 test
  • Navajo neurohepatopathy2 tests
  • Nemaline myopathy 11 test
  • Nemaline myopathy 32 tests
  • Neonatal intrahepatic cholestasis caused by citrin deficiency1 test
  • Nephronophthisis 141 test
  • Neural tube defects, folate-sensitive2 tests
  • Neuroblastoma 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 seizures and nonepileptic hyperkinetic movements1 test
  • Neuroferritinopathy1 test
  • Neurofibromatosis-Noonan syndrome1 test
  • Neuronal ceroid lipofuscinosis 12 tests
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 31 test
  • Neuronal ceroid lipofuscinosis 4B1 test
  • Neuronal ceroid lipofuscinosis 51 test
  • Neuronal ceroid lipofuscinosis 61 test
  • Neuronal ceroid lipofuscinosis 71 test
  • Neuronal ceroid lipofuscinosis 81 test
  • Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy1 test
  • Neuropathy, hereditary sensory and autonomic, type 1A1 test
  • Neuropathy, hereditary sensory and autonomic, type VII1 test
  • 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 12 tests
  • Noonan syndrome 101 test
  • Noonan syndrome 111 test
  • Noonan syndrome 121 test
  • Noonan syndrome 22 tests
  • Noonan syndrome 32 tests
  • Noonan syndrome 42 tests
  • Noonan syndrome 52 tests
  • Noonan syndrome 62 tests
  • Noonan syndrome 73 tests
  • Noonan syndrome 82 tests
  • Noonan syndrome 91 test
  • Noonan syndrome-like disorder with loose anagen hair 11 test
  • Noonan syndrome-like disorder with loose anagen hair 21 test
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
  • Norman-Roberts syndrome1 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 11 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 21 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 31 test
  • Obsessive-compulsive disorder1 test
  • Optic atrophy 51 test
  • Optic atrophy 71 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy5 tests
  • Ornithine carbamoyltransferase deficiency1 test
  • Orthostatic hypotension 13 tests
  • Osteochondritis dissecans1 test
  • Osteogenesis imperfecta type 102 tests
  • Osteogenesis imperfecta type 122 tests
  • Osteogenesis imperfecta type 52 tests
  • Osteogenesis imperfecta type 72 tests
  • Osteogenesis imperfecta type 81 test
  • Osteogenesis imperfecta type 92 tests
  • Osteogenesis imperfecta type I3 tests
  • Osteogenesis imperfecta type III3 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form3 tests
  • Osteogenesis imperfecta, recessive perinatal lethal3 tests
  • Osteogenesis imperfecta, type 181 test
  • Osteogenesis imperfecta, type 191 test
  • Osteogenesis imperfecta, type VI2 tests
  • Osteogenesis imperfecta, type XI2 tests
  • Osteogenesis imperfecta, type xiii2 tests
  • Osteogenesis imperfecta, type xiv2 tests
  • Osteogenesis imperfecta, type xv2 tests
  • Osteogenesis imperfecta, type xvi1 test
  • Osteogenesis imperfecta, type xvii2 tests
  • Osteoglophonic dysplasia1 test
  • Osteoporosis with pseudoglioma1 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 11 test
  • Parkinson disease 71 test
  • Parkinson disease, late-onset3 tests
  • Parkinson-dementia syndrome1 test
  • Parkinsonism-dystonia, infantile, 14 tests
  • Parkinsonism-dystonia, infantile, 21 test
  • Paroxysmal extreme pain disorder1 test
  • Paroxysmal familial ventricular fibrillation 12 tests
  • Paroxysmal nonkinesigenic dyskinesia 13 tests
  • Pendred syndrome3 tests
  • Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease1 test
  • Permanent neonatal diabetes mellitus2 tests
  • Permanent neonatal diabetes mellitus 11 test
  • Permanent neonatal diabetes mellitus 32 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)1 test
  • Peroxisome biogenesis disorder 1B2 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)1 test
  • Peroxisome biogenesis disorder 2B1 test
  • Peroxisome biogenesis disorder 3A1 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
  • Phenylketonuria2 tests
  • Pheochromocytoma2 tests
  • Pick disease1 test
  • Pigmentary pallidal degeneration1 test
  • Pili torti-deafness syndrome1 test
  • Pituitary hormone deficiency, combined 23 tests
  • Pituitary hormone deficiency, combined 63 tests
  • Pituitary hormone deficiency, combined, 13 tests
  • Plasminogen deficiency, type I1 test
  • Platelet glycoprotein IV deficiency1 test
  • Platelet-type bleeding disorder2 tests
  • POLG-related disorders1 test
  • Polycystic kidney disease 23 tests
  • Polycystic kidney disease 41 test
  • Polycystic kidney disease, adult type2 tests
  • Polydactyly, postaxial, type A81 test
  • Polymicrogyria, bilateral temporooccipital1 test
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis1 test
  • Pontocerebellar hypoplasia type 61 test
  • Porphobilinogen synthase deficiency1 test
  • Portal hypertension, noncirrhotic1 test
  • Potassium-aggravated myotonia2 tests
  • Prader-Willi syndrome1 test
  • Preaxial hand polydactyly1 test
  • Premature ovarian failure 11 test
  • Primary erythromelalgia1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 18 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 21 test
  • Progressive familial intrahepatic cholestasis 31 test
  • Progressive myoclonus epilepsy with ataxia1 test
  • Progressive sclerosing poliodystrophy4 tests
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome1 test
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pyridoxal phosphate-responsive seizures3 tests
  • Pyridoxine-dependent epilepsy4 tests
  • Pyruvate carboxylase deficiency2 tests
  • Pyruvate dehydrogenase E1-alpha deficiency5 tests
  • Pyruvate dehydrogenase E1-beta deficiency2 tests
  • Pyruvate dehydrogenase E2 deficiency2 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency1 test
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency2 tests
  • 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 syndrome5 tests
  • Rippling muscle disease 21 test
  • Roussy-Lévy syndrome5 tests
  • Salla disease3 tests
  • Schizophrenia1 test
  • SCN2A-related generalized epilepsy with febrile seizures plus1 test
  • Secondary hemophagocytic lymphohistiocytosis1 test
  • Secondary hypothyroidism2 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis3 tests
  • Septo-optic dysplasia sequence3 tests
  • Severe autosomal recessive muscular dystrophy of childhood - North African type3 tests
  • Severe congenital neutropenia 4, autosomal recessive1 test
  • Severe myoclonic epilepsy in infancy8 tests
  • Severe neonatal-onset encephalopathy with microcephaly4 tests
  • Severe X-linked myotubular myopathy4 tests
  • Short stature due to growth hormone secretagogue receptor deficiency2 tests
  • Short stature with nonspecific skeletal abnormalities1 test
  • Short stature, idiopathic, autosomal2 tests
  • Short stature, idiopathic, X-linked1 test
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly2 tests
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome3 tests
  • Sialic acid storage disease, severe infantile type2 tests
  • Sialuria1 test
  • Sick sinus syndrome 1, autosomal recessive1 test
  • Simpson-Golabi-Behmel syndrome type 11 test
  • Smith-Lemli-Opitz syndrome1 test
  • Somatotroph adenoma1 test
  • Spastic ataxia 5, autosomal recessive1 test
  • Spastic paraplegia 11, autosomal recessive1 test
  • Spastic paraplegia 4, autosomal dominant3 tests
  • Spastic paraplegia 78, autosomal recessive1 test
  • Speech-language disorder 11 test
  • Spheroid body myopathy1 test
  • Spinal muscular atrophy, jokela type1 test
  • Spinal muscular atrophy, type II1 test
  • Spinal muscular atrophy, type IV1 test
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
  • Spinocerebellar ataxia 364 tests
  • 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 64 tests
  • Spinocerebellar ataxia type 84 tests
  • Spondyloepimetaphyseal dysplasia, aggrecan type1 test
  • Spondyloepiphyseal dysplasia congenita1 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
  • Stomatin-deficient cryohydrocytosis with neurologic defects3 tests
  • Stormorken syndrome1 test
  • Striatal necrosis, bilateral, and progressive polyneuropathy2 tests
  • Succinate-semialdehyde dehydrogenase deficiency2 tests
  • Succinyl-CoA acetoacetate transferase deficiency1 test
  • SUDDEN INFANT DEATH SYNDROME1 test
  • Syndromic X-linked intellectual disability Lubs type4 tests
  • Tay-Sachs disease2 tests
  • Thanatophoric dysplasia type 11 test
  • Three M syndrome 11 test
  • Three M syndrome 21 test
  • Three M syndrome 31 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 dyshormonogenesis 12 tests
  • Thyroid dyshormonogenesis 61 test
  • Thyroid hormone resistance, generalized, autosomal dominant2 tests
  • Thyroid hormone resistance, generalized, autosomal recessive2 tests
  • Thyroid hormone resistance, selective pituitary2 tests
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • Tobacco addiction, susceptibility to1 test
  • Torsion dystonia 21 test
  • Torsion dystonia 61 test
  • Transcolabamin II deficiency2 tests
  • Transient neonatal diabetes mellitus 22 tests
  • Treacher Collins syndrome 11 test
  • Treacher Collins syndrome 21 test
  • Treacher Collins syndrome 31 test
  • Tuberous sclerosis 12 tests
  • Tuberous sclerosis 22 tests
  • Tuberous sclerosis syndrome1 test
  • Type 2 diabetes mellitus4 tests
  • Tyrosinemia type 31 test
  • Tyrosinemia type I1 test
  • Tyrosinemia type II1 test
  • Usher syndrome type 11 test
  • Usher syndrome type 1D1 test
  • Usher syndrome type 1F1 test
  • Usher syndrome, type 1C1 test
  • Usher syndrome, type 1J1 test
  • Usher syndrome, type 2A2 tests
  • Usher syndrome, type 2C1 test
  • Usher syndrome, type 2D1 test
  • Usher syndrome, type 3B1 test
  • Usher Syndrome, Type III1 test
  • Variegate porphyria1 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 21 test
  • Ventriculomegaly with cystic kidney disease1 test
  • Very long chain acyl-CoA dehydrogenase deficiency3 tests
  • Visceral heterotaxy 5, autosomal1 test
  • Vitamin B12-responsive methylmalonic acidemia type cblA2 tests
  • Vitamin B12-responsive methylmalonic acidemia type cblB1 test
  • Vitamin d hydroxylation-deficient rickets, type 1b1 test
  • Vitamin D-dependent rickets type 1A1 test
  • Vitamin D-dependent rickets type II with alopecia1 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 21 test
  • Werdnig-Hoffmann disease2 tests
  • Wilson disease1 test
  • Worth disease1 test
  • X-linked agammaglobulinemia2 tests
  • X-linked agammaglobulinemia with growth hormone deficiency2 tests
  • X-linked dystonia-parkinsonism1 test
  • X-linked hydrocephalus syndrome1 test
  • X-linked intellectual disability-hypotonic face syndrome1 test
  • X-linked severe combined immunodeficiency1 test
  • 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: 2022-06-07
  • CAP, Number: 1441004, Expiration date: 2022-03-11

Licenses

  • CA - California Department of Public Health CDPH, Number: COS 00800363, Expiration date: 2022-02-28
  • GA - Georgia Department of Community Health DCH, Number: 060-381, Expiration date: 2099-06-30
  • 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: 2021-06-30
  • PA - Pennsylvania Department of Health PADOH, Number: 33840, Expiration date: 2021-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO01166, Expiration date: 2021-12-30

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.

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