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GTR Home > Laboratories > MGZ Medical Genetics Center

MGZ Medical Genetics Center

GTR Lab ID: 255845, Last updated:2022-10-05

Personnel

Conditions and tests

  • 3-Methylglutaconic aciduria type 22 tests
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • 7q11.23 microduplication syndrome1 test
  • Accelerated tumor formation, susceptibility to1 test
  • Achondroplasia2 tests
  • Actin accumulation myopathy1 test
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
  • Acute lymphoid leukemia1 test
  • Acyl-CoA dehydrogenase 9 deficiency1 test
  • Age related macular degeneration 11 test
  • Age related macular degeneration 71 test
  • Agenesis of the corpus callosum with peripheral neuropathy1 test
  • Aicardi Goutieres syndrome1 test
  • Aicardi-Goutieres syndrome 12 tests
  • Alagille syndrome due to a JAG1 point mutation1 test
  • Alexander disease2 tests
  • ALG2-congenital disorder of glycosylation1 test
  • ALG3-congenital disorder of glycosylation1 test
  • ALG6-congenital disorder of glycosylation 1C1 test
  • alpha Thalassemia1 test
  • Alpha thalassemia-X-linked intellectual disability syndrome1 test
  • Alpha trait thalassemia1 test
  • Alpha-1-antitrypsin deficiency1 test
  • Alternating hemiplegia of childhood 11 test
  • Alternating hemiplegia of childhood 21 test
  • Alzheimer disease 31 test
  • Alzheimer disease 42 tests
  • Alzheimer disease type 11 test
  • Aminoglycoside-induced deafness1 test
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyotrophic lateral sclerosis7 tests
  • Amyotrophic lateral sclerosis type 12 tests
  • Amyotrophic lateral sclerosis type 101 test
  • Amyotrophic lateral sclerosis type 111 test
  • Amyotrophic lateral sclerosis type 152 tests
  • Amyotrophic lateral sclerosis type 41 test
  • Amyotrophic lateral sclerosis type 61 test
  • Amyotrophic lateral sclerosis type 81 test
  • Amyotrophic lateral sclerosis type 91 test
  • Amyotrophic neuralgia1 test
  • Aneurysm-osteoarthritis syndrome1 test
  • Angelman syndrome2 tests
  • Angiokeratoma corporis diffusum1 test
  • Aniridia 12 tests
  • Anophthalmia-microphthalmia syndrome3 tests
  • Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
  • Anterior segment dysgenesis 31 test
  • Aortic aneurysm, familial thoracic 41 test
  • Aortic aneurysm, familial thoracic 62 tests
  • Arrhythmogenic right ventricular cardiomyopathy2 tests
  • Arthrogryposis, distal, type 1A2 tests
  • Ataxia with myoclonic epilepsy and presenile dementia1 test
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
  • Ataxia-telangiectasia syndrome1 test
  • Autosomal dominant centronuclear myopathy18 tests
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome4 tests
  • Autosomal dominant hypocalcemia 11 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 51 test
  • Autosomal dominant nonsyndromic hearing loss 4A1 test
  • Autosomal dominant nonsyndromic hearing loss 62 tests
  • Autosomal dominant Opitz G/BBB syndrome1 test
  • Autosomal dominant optic atrophy classic form2 tests
  • Autosomal dominant polycystic kidney disease1 test
  • Autosomal dominant slowed nerve conduction velocity1 test
  • Autosomal recessive axonal neuropathy with neuromyotonia1 test
  • Autosomal recessive DOPA responsive dystonia1 test
  • Autosomal recessive infantile epilepsy1 test
  • Autosomal recessive limb-girdle muscular dystrophy1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2A2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2I1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2L1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
  • Autosomal recessive optic atrophy, OPA7 type1 test
  • Autosomal recessive polycystic kidney disease1 test
  • Autosomal recessive pseudohypoaldosteronism type 11 test
  • Autosomal recessive spinocerebellar ataxia 101 test
  • Axenfeld-Rieger syndrome2 tests
  • Azorean disease1 test
  • BAP1-related tumor predisposition syndrome1 test
  • Bardet-Biedl syndrome1 test
  • Batten-Turner congenital myopathy1 test
  • Becker muscular dystrophy16 tests
  • Beckwith-Wiedemann syndrome1 test
  • Behavior disorder6 tests
  • Benign neonatal seizures2 tests
  • Benign Rolandic epilepsy1 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy3 tests
  • beta Thalassemia1 test
  • Beta thalassemia intermedia1 test
  • Beta-thalassemia major1 test
  • Bethlem myopathy 21 test
  • Bilateral frontoparietal polymicrogyria1 test
  • Biotin-responsive basal ganglia disease1 test
  • Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
  • Brain small vessel disease 1 with or without ocular anomalies5 tests
  • Breast and colorectal cancer, susceptibility to1 test
  • Breast and/or ovarian cancer1 test
  • Breast cancer 31 test
  • Breast cancer, susceptibility to1 test
  • Breast neoplasm3 tests
  • Breast-ovarian cancer, familial, susceptibility to, 19 tests
  • Breast-ovarian cancer, familial, susceptibility to, 29 tests
  • Breast-ovarian cancer, familial, susceptibility to, 31 test
  • Breast-ovarian cancer, familial, susceptibility to, 41 test
  • Bronchiectasis with or without elevated sweat chloride 12 tests
  • Brown-Vialetto-van Laere syndrome 11 test
  • Brown-Vialetto-van Laere syndrome 21 test
  • Brugada syndrome 52 tests
  • CARASIL syndrome1 test
  • Carcinoma of colon2 tests
  • Carcinoma of pancreas1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11 test
  • Cardiomyopathy3 tests
  • Cardiomyopathy, mitochondrial1 test
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome1 test
  • Carney complex1 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyl transferase II deficiency, myopathic form1 test
  • Carnitine palmitoyl transferase II deficiency, neonatal form1 test
  • Carnitine palmitoyl transferase II deficiency, severe infantile form2 tests
  • Cataract 1 multiple types1 test
  • Catecholaminergic polymorphic ventricular tachycardia 11 test
  • Caveolinopathy16 tests
  • Central core myopathy2 tests
  • Centronuclear myopathy1 test
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
  • Cerebral creatine deficiency syndrome1 test
  • Cerebral folate transport deficiency1 test
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
  • Charcot-Marie-Tooth disease axonal type 2C1 test
  • Charcot-Marie-Tooth disease axonal type 2F1 test
  • Charcot-Marie-Tooth disease axonal type 2L1 test
  • Charcot-Marie-Tooth disease axonal type 2N1 test
  • Charcot-Marie-Tooth disease axonal type 2O1 test
  • Charcot-Marie-Tooth disease axonal type 2P1 test
  • Charcot-Marie-Tooth disease dominant intermediate B1 test
  • Charcot-Marie-Tooth disease dominant intermediate C1 test
  • Charcot-Marie-Tooth disease dominant intermediate D2 tests
  • Charcot-Marie-Tooth disease dominant intermediate E1 test
  • Charcot-Marie-Tooth disease recessive intermediate B1 test
  • Charcot-Marie-Tooth disease type 1B2 tests
  • Charcot-Marie-Tooth disease type 1C1 test
  • Charcot-Marie-Tooth disease type 1D2 tests
  • Charcot-Marie-Tooth disease type 1E2 tests
  • Charcot-Marie-Tooth disease type 1F1 test
  • Charcot-Marie-Tooth disease type 2A21 test
  • Charcot-Marie-Tooth disease type 2B1 test
  • Charcot-Marie-Tooth disease type 2B13 tests
  • Charcot-Marie-Tooth disease type 2B21 test
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 4A1 test
  • Charcot-Marie-Tooth disease type 4B11 test
  • Charcot-Marie-Tooth disease type 4B21 test
  • Charcot-Marie-Tooth disease type 4C1 test
  • Charcot-Marie-Tooth disease type 4D1 test
  • Charcot-Marie-Tooth disease type 4E3 tests
  • Charcot-Marie-Tooth disease type 4F1 test
  • Charcot-Marie-Tooth disease type 4H1 test
  • Charcot-Marie-Tooth disease type 4J1 test
  • Charcot-Marie-Tooth disease X-linked dominant 11 test
  • Charcot-Marie-Tooth disease X-linked recessive 51 test
  • Charcot-Marie-Tooth disease, type IA2 tests
  • Charcot-Marie-Tooth Neuropathy Type 2H/2K1 test
  • Chorea-acanthocytosis1 test
  • Christianson syndrome1 test
  • CHRNA1-Related Congenital Myasthenic Syndrome1 test
  • Chromosome 14q, partial deletions1 test
  • Chromosome 22q11.2 microduplication syndrome1 test
  • Citrullinemia type I1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Coenzyme Q10 deficiency1 test
  • Coenzyme Q10 deficiency, primary, 16 tests
  • Coffin-Lowry syndrome1 test
  • Coffin-Siris syndrome 11 test
  • Collagen 6-related myopathy1 test
  • Colobomatous microphthalmia-rhizomelic dysplasia syndrome1 test
  • Colorectal cancer1 test
  • Colorectal cancer, hereditary nonpolyposis, type 21 test
  • Colorectal cancer, susceptibility to, 101 test
  • Colorectal cancer, susceptibility to, 121 test
  • Combined immunodeficiency due to STIM1 deficiency1 test
  • Combined oxidative phosphorylation defect type 21 test
  • Combined oxidative phosphorylation defect type 41 test
  • Combined oxidative phosphorylation defect type 71 test
  • Combined oxidative phosphorylation defect type 81 test
  • Complete trisomy 13 syndrome1 test
  • Complete trisomy 18 syndrome1 test
  • Complete trisomy 21 syndrome1 test
  • Congenital aniridia1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
  • Congenital central hypoventilation1 test
  • Congenital generalized lipodystrophy1 test
  • Congenital generalized lipodystrophy type 41 test
  • Congenital multicore myopathy with external ophthalmoplegia1 test
  • Congenital muscular dystrophy7 tests
  • Congenital muscular dystrophy due to LMNA mutation2 tests
  • Congenital muscular dystrophy due to partial LAMA2 deficiency1 test
  • Congenital myasthenic syndrome11 tests
  • Congenital myasthenic syndrome 102 tests
  • Congenital myasthenic syndrome 122 tests
  • Congenital myasthenic syndrome 131 test
  • Congenital myasthenic syndrome 161 test
  • Congenital myasthenic syndrome 4C6 tests
  • Congenital myasthenic syndrome 51 test
  • Congenital myopathy with fiber type disproportion18 tests
  • Congenital myotonia, autosomal dominant form4 tests
  • Congenital myotonia, autosomal recessive form1 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Cornelia de Lange syndrome 11 test
  • Cornelia de Lange syndrome 31 test
  • Cornelia de Lange syndrome 41 test
  • Cornelia de Lange syndrome 51 test
  • Corpus callosum agenesis-abnormal genitalia syndrome1 test
  • Cowden syndrome1 test
  • Creatine transporter deficiency2 tests
  • Cutaneous polyarteritis nodosa1 test
  • Cutis laxa, autosomal recessive, type 1A1 test
  • Cutis laxa, X-linked1 test
  • Cyclopia2 tests
  • Cystic fibrosis3 tests
  • Cytochrome-c oxidase deficiency disease3 tests
  • Danon disease1 test
  • De Lange syndrome1 test
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Dejerine-Sottas disease3 tests
  • Dentatorubral-pallidoluysian atrophy1 test
  • Developmental and epileptic encephalopathy 941 test
  • Developmental and epileptic encephalopathy, 16 tests
  • Developmental and epileptic encephalopathy, 111 test
  • Developmental and epileptic encephalopathy, 141 test
  • Developmental and epileptic encephalopathy, 21 test
  • Developmental and epileptic encephalopathy, 231 test
  • Developmental and epileptic encephalopathy, 241 test
  • Developmental and epileptic encephalopathy, 415 tests
  • Developmental and epileptic encephalopathy, 914 tests
  • Diabetes-deafness syndrome maternally transmitted1 test
  • Dilated cardiomyopathy 1A4 tests
  • Dilated cardiomyopathy 1C1 test
  • Dilated cardiomyopathy 1HH1 test
  • Dilated cardiomyopathy 1L1 test
  • Dilated cardiomyopathy 1S1 test
  • Dilated cardiomyopathy 3B2 tests
  • Disorder of cardiovascular system1 test
  • Disorder of fatty acid metabolism1 test
  • Distal arthrogryposis type 2B12 tests
  • Distal myopathy with anterior tibial onset1 test
  • Distal myopathy with posterior leg and anterior hand involvement1 test
  • DPAGT1-congenital disorder of glycosylation1 test
  • Drash syndrome1 test
  • Duchenne muscular dystrophy16 tests
  • Dysmorphic features6 tests
  • Dyssynergia1 test
  • Dystonia 121 test
  • Dystonia 52 tests
  • Dystonic disorder2 tests
  • Early myoclonic encephalopathy1 test
  • Early-onset generalized limb-onset dystonia1 test
  • Ectopia lentis 1, isolated, autosomal dominant3 tests
  • Ectopia lentis 2, isolated, autosomal recessive3 tests
  • Ehlers-Danlos syndrome, classic type1 test
  • Ehlers-Danlos syndrome, type 41 test
  • Eichsfeld type congenital muscular dystrophy3 tests
  • Emery-Dreifuss muscular dystrophy4 tests
  • Encephalopathy due to GLUT1 deficiency10 tests
  • Epilepsy, childhood absence 21 test
  • Epilepsy, childhood absence, susceptibility to, 12 tests
  • Epilepsy, childhood absence, susceptibility to, 61 test
  • Epilepsy, familial adult myoclonic, 11 test
  • Epilepsy, idiopathic generalized, susceptibility to, 131 test
  • Epilepsy, idiopathic generalized, susceptibility to, 81 test
  • Epilepsy, juvenile absence, susceptibility to, 11 test
  • Epilepsy, juvenile myoclonic 71 test
  • Epilepsy-telangiectasia syndrome1 test
  • Episodic ataxia type 11 test
  • Episodic ataxia type 22 tests
  • Episodic kinesigenic dyskinesia 11 test
  • Episodic pain syndrome, familial, 21 test
  • Ethylmalonic encephalopathy1 test
  • Facioscapulohumeral muscular dystrophy1 test
  • Facioscapulohumeral muscular dystrophy 22 tests
  • Familial acute necrotizing encephalopathy1 test
  • Familial adenomatous polyposis 11 test
  • Familial adenomatous polyposis 21 test
  • Familial cancer of breast6 tests
  • Familial colorectal cancer4 tests
  • Familial episodic pain syndrome with predominantly lower limb involvement1 test
  • Familial episodic pain syndrome with predominantly upper body involvement1 test
  • Familial hemiplegic migraine1 test
  • Familial hypocalciuric hypercalcemia 11 test
  • Familial infantile myasthenia1 test
  • Familial meningioma1 test
  • Familial multiple polyposis syndrome2 tests
  • Familial pancreatic carcinoma1 test
  • Familial thoracic aortic aneurysm and aortic dissection1 test
  • Fatal familial insomnia1 test
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
  • Febrile seizures, familial, 115 tests
  • Febrile seizures, familial, 81 test
  • Focal segmental glomerulosclerosis 13 tests
  • Focal segmental glomerulosclerosis 51 test
  • Foveal hypoplasia 11 test
  • Fragile X syndrome2 tests
  • Fragile X-associated tremor/ataxia syndrome1 test
  • Friedreich ataxia 21 test
  • Frontotemporal dementia1 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
  • GARS-Associated Axonal Neuropathy1 test
  • Gastrointestinal stroma tumor2 tests
  • Generalized epilepsy1 test
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Generalized epilepsy with febrile seizures plus, type 215 tests
  • Generalized epilepsy with febrile seizures plus, type 71 test
  • Generalized epilepsy with febrile seizures plus, type 91 test
  • Generalized juvenile polyposis/juvenile polyposis coli2 tests
  • Gerstmann-Straussler-Scheinker syndrome1 test
  • Giant axonal neuropathy 11 test
  • Gilbert syndrome1 test
  • Glaucoma 3, primary congenital, D1 test
  • Glaucoma 3, primary infantile, B1 test
  • Glaucoma 3A3 tests
  • Global developmental delay6 tests
  • GLUT1 deficiency syndrome3 tests
  • Glycogen storage disease, type II1 test
  • Glycogen storage disease, type V1 test
  • GNE myopathy1 test
  • Gorlin syndrome1 test
  • Hb SS disease1 test
  • Hearing loss, sensorineural, autosomal-mitochondrial type1 test
  • Hemochromatosis type 11 test
  • Hemoglobin H disease1 test
  • Hemoglobin H disease, nondeletional1 test
  • Hemoglobinopathy2 tests
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 11 test
  • Hereditary breast ovarian cancer syndrome2 tests
  • Hereditary cancer-predisposing syndrome8 tests
  • Hereditary diffuse gastric adenocarcinoma5 tests
  • Hereditary diffuse leukoencephalopathy with spheroids1 test
  • Hereditary disease1 test
  • Hereditary episodic ataxia1 test
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary liability to pressure palsies2 tests
  • Hereditary motor and sensory neuropathy with optic atrophy1 test
  • Hereditary myopathy with lactic acidosis due to ISCU deficiency1 test
  • Hereditary pancreatitis6 tests
  • Hereditary sensory and autonomic neuropathy type 11 test
  • Hereditary sensory and autonomic neuropathy type 21 test
  • Hereditary sensory and autonomic neuropathy type 71 test
  • Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
  • Hereditary sensory neuropathy-deafness-dementia syndrome1 test
  • Hereditary spastic paraplegia2 tests
  • Hereditary spastic paraplegia 111 test
  • Hereditary spastic paraplegia 172 tests
  • Hereditary spastic paraplegia 301 test
  • Hereditary spastic paraplegia 3A1 test
  • Hereditary spastic paraplegia 41 test
  • Hereditary spastic paraplegia 531 test
  • Hereditary spastic paraplegia 551 test
  • Hereditary spastic paraplegia 5A1 test
  • Hereditary spastic paraplegia 71 test
  • Holoprosencephaly 22 tests
  • Huntington disease1 test
  • Huntington disease-like 11 test
  • Hutchinson-Gilford syndrome1 test
  • HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED1 test
  • Hypercholesterolemia, autosomal dominant, type B1 test
  • Hyperekplexia1 test
  • Hyperekplexia 11 test
  • Hyperinsulinemic hypoglycemia, familial, 41 test
  • Hyperkalemic periodic paralysis1 test
  • Hypertrophic cardiomyopathy 13 tests
  • Hypertrophic cardiomyopathy 101 test
  • Hypertrophic cardiomyopathy 251 test
  • Hypochondroplasia1 test
  • Hypokalemic periodic paralysis, type 11 test
  • Hypokalemic periodic paralysis, type 21 test
  • Hypomyelination and Congenital Cataract1 test
  • Idiopathic generalized epilepsy18 tests
  • IMAGe syndrome1 test
  • Inborn mitochondrial myopathy12 tests
  • Infantile convulsions and choreoathetosis1 test
  • Infantile liver failure syndrome 21 test
  • Infantile onset spinocerebellar ataxia1 test
  • Infantile seizures1 test
  • Infantile-onset X-linked spinal muscular atrophy1 test
  • Inherited Creutzfeldt-Jakob disease1 test
  • Intellectual disability6 tests
  • Intellectual disability, autosomal dominant 131 test
  • Intellectual disability, autosomal dominant 161 test
  • Intellectual disability, autosomal dominant 201 test
  • Intellectual disability, autosomal dominant 91 test
  • Intellectual disability, X-linked 11 test
  • Intellectual disability, X-linked, with or without seizures, arx-related2 tests
  • Intellectual disability-hypotonic facies syndrome, X-linked, 12 tests
  • Intracerebral hemorrhage1 test
  • Irido-corneo-trabecular dysgenesis3 tests
  • Isolated microphthalmia 31 test
  • Isolated microphthalmia 41 test
  • Juvenile myoclonic epilepsy4 tests
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke3 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
  • Kabuki syndrome 11 test
  • Kabuki syndrome 21 test
  • KCNQ2-Related Disorders1 test
  • Kearns-Sayre syndrome2 tests
  • Kennedy disease1 test
  • Keratoconus 12 tests
  • Klippel-Feil syndrome 1, autosomal dominant1 test
  • Knobloch syndrome1 test
  • Kuru, susceptibility to1 test
  • Lafora disease2 tests
  • LAMP2-Related Cardiomyopathy1 test
  • Landau-Kleffner syndrome1 test
  • Learning difficulties6 tests
  • Leber congenital amaurosis 171 test
  • Leber optic atrophy1 test
  • Legius syndrome1 test
  • Leigh syndrome15 tests
  • Leigh Syndrome (nuclear DNA mutation)1 test
  • Lethal infantile mitochondrial myopathy5 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukocyte adhesion deficiency type II1 test
  • Leukodystrophy1 test
  • Leukoencephalopathy1 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1 test
  • Li-Fraumeni syndrome9 tests
  • Li-Fraumeni syndrome 28 tests
  • Limb-girdle muscular dystrophy7 tests
  • Lissencephaly due to LIS1 mutation3 tests
  • Lissencephaly type 1 due to doublecortin gene mutation2 tests
  • Loeys-Dietz syndrome 41 test
  • Long QT syndrome 12 tests
  • Long QT syndrome 21 test
  • Long QT syndrome 31 test
  • Lynch syndrome11 tests
  • Lynch syndrome 11 test
  • Malan overgrowth syndrome1 test
  • Malignant hyperthermia of anesthesia1 test
  • Malignant hyperthermia, susceptibility to, 11 test
  • Mandibular hypoplasia-deafness-progeroid syndrome1 test
  • Marfan syndrome3 tests
  • Marshall-Smith syndrome1 test
  • Maturity-onset diabetes of the young type 21 test
  • McLeod neuroacanthocytosis syndrome1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
  • Megaconial type congenital muscular dystrophy1 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
  • MEGF10-Related Myopathy1 test
  • Melanoma, cutaneous malignant, susceptibility to, 101 test
  • Melanoma, cutaneous malignant, susceptibility to, 21 test
  • Menkes kinky-hair syndrome1 test
  • Merosin deficient congenital muscular dystrophy2 tests
  • MERRF syndrome1 test
  • MERRF/MELAS overlap syndrome1 test
  • Microcephaly, normal intelligence and immunodeficiency1 test
  • Microphthalmia, isolated, with coloboma 61 test
  • Microphthalmia, syndromic 11 test
  • Migraine14 tests
  • Migraine, familial hemiplegic, 11 test
  • Migraine, familial hemiplegic, 21 test
  • Migraine, familial hemiplegic, 314 tests
  • Mitochondrial complex I deficiency3 tests
  • Mitochondrial complex II deficiency, nuclear type 13 tests
  • Mitochondrial complex III deficiency nuclear type 14 tests
  • Mitochondrial complex III deficiency nuclear type 21 test
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 21 test
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11 test
  • Mitochondrial disease32 tests
  • Mitochondrial DNA Deletion Syndromes2 tests
  • Mitochondrial DNA depletion syndrome 13 tests
  • Mitochondrial DNA depletion syndrome 111 test
  • Mitochondrial DNA depletion syndrome 31 test
  • Mitochondrial DNA depletion syndrome 8a1 test
  • Mitochondrial DNA depletion syndrome 92 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form2 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
  • Mitochondrial DNA depletion syndrome, hepatocerebral form2 tests
  • Mitochondrial DNA depletion syndrome, myopathic form1 test
  • Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
  • Mitochondrial non-syndromic sensorineural hearing loss4 tests
  • Mitochondrial trifunctional protein deficiency2 tests
  • Miyoshi muscular dystrophy 11 test
  • Miyoshi muscular dystrophy 31 test
  • Motor developmental delay due to 14q32.2 paternally expressed gene defect1 test
  • Mowat-Wilson syndrome1 test
  • Moyamoya disease 11 test
  • Moyamoya disease 51 test
  • MPI-congenital disorder of glycosylation1 test
  • MTHFR THERMOLABILE POLYMORPHISM1 test
  • Muenke syndrome1 test
  • Multiminicore myopathy2 tests
  • Multiple acyl-CoA dehydrogenase deficiency2 tests
  • Multiple congenital anomalies6 tests
  • Multiple cutaneous leiomyomas1 test
  • Multiple endocrine neoplasia, type 14 tests
  • Multiple endocrine neoplasia, type 21 test
  • Multiple endocrine neoplasia, type 2a3 tests
  • Multiple fibrofolliculomas1 test
  • Multisystemic smooth muscle dysfunction syndrome1 test
  • Muscle AMP deaminase deficiency1 test
  • Muscular dystrophy, limb-girdle, autosomal dominant3 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
  • Muscular dystrophy-dystroglycanopathy type B52 tests
  • Myasthenic syndrome, congenital, 1B, fast-channel2 tests
  • Myasthenic syndrome, slow-channel congenital2 tests
  • MYH7-related late-onset scapuloperoneal muscular dystrophy1 test
  • MYH7-related skeletal myopathy1 test
  • Myoclonic dystonia 111 test
  • Myofibrillar myopathy6 tests
  • Myofibrillar myopathy 21 test
  • Myofibrillar myopathy 31 test
  • Myofibrillar myopathy 41 test
  • Myofibrillar myopathy 51 test
  • Myofibrillar myopathy 61 test
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Myopathy18 tests
  • Myopathy and diabetes mellitus1 test
  • Myopathy, centronuclear, 21 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 12 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 21 test
  • Myopathy, proximal, and ophthalmoplegia1 test
  • Myopathy, tubular aggregate, 11 test
  • Myosin storage myopathy1 test
  • Myositis1 test
  • Myotonic dystrophy type 21 test
  • Navajo neurohepatopathy1 test
  • Nemaline myopathy8 tests
  • Nemaline myopathy 11 test
  • Nemaline myopathy 21 test
  • Nemaline myopathy 42 tests
  • Nemaline myopathy 51 test
  • Nemaline myopathy 61 test
  • Nemaline myopathy 78 tests
  • Nemaline myopathy 81 test
  • Nemaline myopathy 91 test
  • Neonatal severe primary hyperparathyroidism1 test
  • Neurodegeneration with brain iron accumulation1 test
  • Neuronal ceroid lipofuscinosis 11 test
  • Neuronopathy, distal hereditary motor, type 11 test
  • Neuronopathy, distal hereditary motor, type 2A1 test
  • Neuronopathy, distal hereditary motor, type 2B1 test
  • Neuronopathy, distal hereditary motor, type 2C1 test
  • Neuronopathy, distal hereditary motor, type 5A2 tests
  • Neuronopathy, distal hereditary motor, type 7B1 test
  • Neuropathy, hereditary sensory and autonomic, type 1C1 test
  • Neuropathy, hereditary sensory and autonomic, type 2A1 test
  • Neuropathy, hereditary sensory and autonomic, type 2B1 test
  • Neuropathy, hereditary sensory, type 1D1 test
  • Neuropathy, hereditary sensory, type 2C1 test
  • Neutral lipid storage myopathy1 test
  • Nicolaides-Baraitser syndrome1 test
  • Non-syndromic X-linked intellectual disability1 test
  • Nonpapillary renal cell carcinoma1 test
  • Noonan syndrome2 tests
  • Noonan syndrome 11 test
  • Noonan syndrome 31 test
  • Noonan syndrome 41 test
  • not provided1 test
  • Nystagmus 1, congenital, X-linked1 test
  • Ocular albinism, type I1 test
  • Oculocutaneous albinism type 1B1 test
  • Oculocutaneous albinism type 41 test
  • Oculopharyngeal muscular dystrophy1 test
  • Oculopharyngodistal myopathy1 test
  • Oligodontia-cancer predisposition syndrome1 test
  • Optic atrophy1 test
  • Optic atrophy 31 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy3 tests
  • Ovarian cancer1 test
  • Pancreatic cancer, susceptibility to, 11 test
  • Papillary renal cell carcinoma type 11 test
  • Paragangliomas 11 test
  • Paragangliomas 31 test
  • Paragangliomas 41 test
  • Paramyotonia congenita of Von Eulenburg1 test
  • Paroxysmal extreme pain disorder1 test
  • Partington syndrome1 test
  • Pearson syndrome2 tests
  • Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
  • Periventricular heterotopia with microcephaly, autosomal recessive1 test
  • Perry syndrome1 test
  • Peters plus syndrome1 test
  • Peutz-Jeghers syndrome4 tests
  • PHGDH deficiency1 test
  • Pitt-Hopkins syndrome1 test
  • Pituitary hormone deficiency, combined, 61 test
  • POLG-related disorders17 tests
  • Polycystic kidney disease 22 tests
  • Polycystic kidney disease, adult type2 tests
  • Pontocerebellar hypoplasia type 1A1 test
  • Pontocerebellar hypoplasia type 21 test
  • Pontocerebellar hypoplasia type 2B1 test
  • Pontocerebellar hypoplasia type 2C1 test
  • Pontocerebellar hypoplasia type 41 test
  • Porencephaly 21 test
  • Porencephaly-microcephaly-bilateral congenital cataract syndrome1 test
  • Porphyria1 test
  • Potassium-aggravated myotonia4 tests
  • Prader-Willi syndrome1 test
  • Premature ovarian failure 11 test
  • Primary ciliary dyskinesia 291 test
  • Primary dilated cardiomyopathy6 tests
  • Primary erythromelalgia1 test
  • Primary familial hypertrophic cardiomyopathy2 tests
  • Progressive external ophthalmoplegia3 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 13 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 24 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 32 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12 tests
  • Progressive familial intrahepatic cholestasis type 21 test
  • Pseudohypoaldosteronism type 2C1 test
  • PTEN hamartoma tumor syndrome2 tests
  • Pulmonary hypertension, primary, 11 test
  • Pulmonary hypertension, primary, 21 test
  • Pyridoxal phosphate-responsive seizures1 test
  • Pyridoxine-dependent epilepsy1 test
  • Pyruvate dehydrogenase complex deficiency2 tests
  • Pyruvate dehydrogenase E1-alpha deficiency1 test
  • Pyruvate dehydrogenase E3-binding protein deficiency1 test
  • Qualitative or quantitative defects of dysferlin1 test
  • Qualitative or quantitative defects of dystrophin1 test
  • RASopathy1 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
  • Rett syndrome11 tests
  • Rett syndrome, congenital variant15 tests
  • Rhabdoid tumor predisposition syndrome 11 test
  • Rhabdoid tumor predisposition syndrome 21 test
  • Rippling muscle disease 21 test
  • Sarcotubular myopathy1 test
  • Schaaf-Yang syndrome1 test
  • Schizencephaly1 test
  • Schwannomatosis 11 test
  • Schwannomatosis 21 test
  • Seizure1 test
  • Seizures, benign familial infantile, 21 test
  • Seizures, benign familial neonatal, 11 test
  • Seizures, benign familial neonatal, 22 tests
  • Sengers syndrome1 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis21 tests
  • Severe myoclonic epilepsy in infancy15 tests
  • Severe neonatal-onset encephalopathy with microcephaly8 tests
  • Severe X-linked myotubular myopathy1 test
  • Sickle cell-beta-thalassemia2 tests
  • Sickle cell-hemoglobin C disease1 test
  • Sickle cell-hemoglobin D disease1 test
  • Sickle cell-Hemoglobin O Arab disease1 test
  • Silver-Russell syndrome 12 tests
  • Silver-Russell syndrome due to an imprinting defect of 11p151 test
  • Smith-Magenis syndrome1 test
  • Sotos syndrome1 test
  • Sotos syndrome 11 test
  • Spermatogenic failure, Y-linked, 21 test
  • Spheroid body myopathy1 test
  • Spinal muscular atrophy2 tests
  • Spinal muscular atrophy, type II1 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 131 test
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 181 test
  • Spinocerebellar ataxia type 21 test
  • Spinocerebellar ataxia type 61 test
  • Spinocerebellar ataxia type 81 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
  • Spongiform encephalopathy with neuropsychiatric features1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Stickler syndrome type 12 tests
  • Stickler syndrome type 21 test
  • Stuve-Wiedemann syndrome1 test
  • Syndromic intellectual disability1 test
  • Syndromic X-linked intellectual disability Lubs type9 tests
  • Telangiectasia, hereditary hemorrhagic, type 11 test
  • Telangiectasia, hereditary hemorrhagic, type 21 test
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • Thalassemia2 tests
  • Thalassemia intermedia1 test
  • Thalassemia minor1 test
  • Thanatophoric dysplasia type 12 tests
  • Thrombophilia due to activated protein C resistance1 test
  • Thrombophilia due to thrombin defect1 test
  • Torsion dystonia 61 test
  • Turcot syndrome4 tests
  • Ullrich congenital muscular dystrophy 21 test
  • Unverricht-Lundborg syndrome1 test
  • Usher syndrome type 3B1 test
  • Uveal coloboma-cleft lip and palate-intellectual disability1 test
  • Vanishing white matter disease1 test
  • Velocardiofacial syndrome1 test
  • Very long chain acyl-CoA dehydrogenase deficiency1 test
  • Visceral myopathy1 test
  • Von Hippel-Lindau syndrome1 test
  • Warburg micro syndrome1 test
  • Weaver syndrome2 tests
  • Weill-Marchesani 4 syndrome, recessive1 test
  • Weill-Marchesani syndrome 11 test
  • Weill-Marchesani syndrome 31 test
  • Werdnig-Hoffmann disease2 tests
  • West syndrome14 tests
  • Wiedemann-Steiner syndrome1 test
  • Williams syndrome1 test
  • Wilms tumor 11 test
  • Wolfram syndrome 12 tests
  • Wolfram syndrome 21 test
  • Wolfram-like syndrome1 test
  • X inactivation, familial skewed, 11 test
  • X inactivation, familial skewed, 21 test
  • X-linked agammaglobulinemia1 test
  • X-linked distal spinal muscular atrophy type 31 test
  • X-linked Emery-Dreifuss muscular dystrophy2 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked intellectual disability Cabezas type1 test
  • X-linked intellectual disability-psychosis-macroorchidism syndrome12 tests
  • X-linked lissencephaly with abnormal genitalia1 test
  • X-linked myopathy with postural muscle atrophy2 tests
  • X-linked Opitz G/BBB syndrome1 test
  • XK aprosencephaly1 test
  • Y chromosome-related disorders1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Genetic counseling
  • Identity Testing
  • Mutation Confirmation
  • Preimplantation Genetic Diagnosis (PGD)
  • Result interpretation
  • Uniparental Disomy (UPD) Testing
  • X-Chromosome Inactivation Studies
  • Liquid Biopsy (NSCLC, colon cancer, melanoma)
  • Non-invasive prenatale testing (NIPT)

List of certifications/licenses

Certifications

  • DAkkS, Number: D-ML-13242-01-00, Expiration date: 2027-08-13

Participation in external programs

Standardization programs

  • ISCA Consortium (International Standards for Cytogenomic Arrays)
  • Locus-specific Databases
  • Mutation-specific Databases
  • Other

Data exchange Programs

  • ICCG (International Collaboration for Clinical Genetics) - Previously ISCA
  • Locus-specific Databases
  • Mutation-specific Databases

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.