GTR Home > Laboratories > MGZ Medical Genetics Center

MGZ Medical Genetics Center

GTR Lab ID: 255845, Last updated:2018-08-02

Personnel

Conditions and tests

  • 21-hydroxylase deficiency1 test
  • 22q11.2 duplication syndrome1 test
  • 3-Methylglutaconic aciduria type 22 tests
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • Accelerated tumor formation, susceptibility to1 test
  • Achondroplasia2 tests
  • Acute lymphoid leukemia1 test
  • Acyl-CoA dehydrogenase family, member 9, deficiency of1 test
  • Age-related macular degeneration 11 test
  • Age-related macular degeneration 71 test
  • Aicardi Goutieres syndrome1 test
  • Aicardi Goutieres syndrome 12 tests
  • Alagille syndrome 11 test
  • Alexander's disease2 tests
  • alpha Thalassemia1 test
  • Alpha trait thalassemia1 test
  • Alpha-1-antitrypsin deficiency1 test
  • Alpha-B crystallinopathy1 test
  • Alternating hemiplegia of childhood 11 test
  • Alternating hemiplegia of childhood 21 test
  • Alzheimer disease, type 11 test
  • Alzheimer disease, type 31 test
  • Alzheimer disease, type 42 tests
  • Aminoglycoside-induced deafness1 test
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyotrophic lateral sclerosis7 tests
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia2 tests
  • Amyotrophic lateral sclerosis type 12 tests
  • Amyotrophic lateral sclerosis type 101 test
  • Amyotrophic lateral sclerosis type 111 test
  • Amyotrophic lateral sclerosis type 41 test
  • Amyotrophic lateral sclerosis type 61 test
  • Amyotrophic lateral sclerosis type 81 test
  • Amyotrophic lateral sclerosis type 91 test
  • Amyotrophy, hereditary neuralgic1 test
  • Andermann syndrome1 test
  • Angelman syndrome3 tests
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps4 tests
  • Aniridia 12 tests
  • Anophthalmia-microphthalmia syndrome3 tests
  • Anterior segment dysgenesis 31 test
  • Aortic aneurysm, familial thoracic 41 test
  • Aortic aneurysm, familial thoracic 62 tests
  • Arrhythmogenic right ventricular cardiomyopathy2 tests
  • Ataxia1 test
  • Ataxia with myoclonic epilepsy and presenile dementia1 test
  • Ataxia-oculomotor apraxia type 11 test
  • Ataxia-telangiectasia syndrome1 test
  • ATR-X syndrome1 test
  • Autosomal dominant optic atrophy plus syndrome3 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 13 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 24 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 32 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 41 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 51 test
  • Autosomal recessive centronuclear myopathy1 test
  • Autosomal recessive cutis laxa type IA1 test
  • Autosomal recessive infantile epilepsy1 test
  • Autosomal recessive polycystic kidney disease1 test
  • Axenfeld-rieger anomaly2 tests
  • Azorean disease1 test
  • Bardet-Biedl syndrome1 test
  • Basal ganglia disease, biotin-responsive1 test
  • Becker muscular dystrophy16 tests
  • Beckwith-Wiedemann syndrome2 tests
  • Behavior disorder6 tests
  • Benign familial neonatal seizures2 tests
  • Benign familial neonatal seizures 11 test
  • Benign familial neonatal seizures 22 tests
  • Benign Rolandic epilepsy1 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
  • beta Thalassemia1 test
  • Beta thalassemia intermedia1 test
  • Beta thalassemia major1 test
  • Beta thalassemia minor1 test
  • Bethlem myopathy 21 test
  • Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
  • Brain small vessel disease with hemorrhage3 tests
  • Breast and colorectal cancer, susceptibility to1 test
  • Breast and/or ovarian cancer1 test
  • Breast cancer 31 test
  • Breast cancer, susceptibility to1 test
  • Breast-ovarian cancer, familial 19 tests
  • Breast-ovarian cancer, familial 29 tests
  • Breast-ovarian cancer, familial 31 test
  • Breast-ovarian cancer, familial 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
  • Bulbo-spinal atrophy X-linked1 test
  • Carcinoma of colon2 tests
  • Carcinoma of pancreas1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency1 test
  • Cardiomyopathy3 tests
  • Cardiomyopathy, mitochondrial1 test
  • Carney complex1 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyltransferase II deficiency, infantile2 tests
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal1 test
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced1 test
  • Cataract 11 test
  • Cataract and cardiomyopathy1 test
  • Catecholaminergic polymorphic ventricular tachycardia type 11 test
  • Caveolinopathy16 tests
  • Cerebellar ataxia infantile with progressive external ophthalmoplegia2 tests
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss1 test
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant1 test
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Cerebral creatine deficiency syndrome1 test
  • Cerebral folate deficiency1 test
  • Ceroid lipofuscinosis neuronal 11 test
  • Charcot-Marie-Tooth disease and deafness2 tests
  • Charcot-Marie-Tooth disease dominant intermediate 32 tests
  • Charcot-Marie-Tooth disease type 2B13 tests
  • Charcot-Marie-Tooth disease type 2B21 test
  • Charcot-Marie-Tooth disease type 2C1 test
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2F1 test
  • Charcot-Marie-Tooth disease type 2P1 test
  • Charcot-Marie-Tooth disease, axonal, type 2b1 test
  • Charcot-Marie-Tooth disease, axonal, type 2O1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1b2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1d2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1f1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 4f1 test
  • Charcot-Marie-Tooth disease, dominant intermediate B1 test
  • Charcot-Marie-Tooth disease, dominant intermediate C1 test
  • Charcot-Marie-Tooth disease, dominant intermediate E1 test
  • Charcot-Marie-Tooth disease, recessive intermediate B1 test
  • Charcot-Marie-Tooth disease, type 1C1 test
  • Charcot-Marie-Tooth disease, type 2A2A1 test
  • Charcot-Marie-Tooth disease, type 2L1 test
  • Charcot-Marie-Tooth disease, type 2N1 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 4H1 test
  • Charcot-Marie-Tooth disease, type 4J1 test
  • Charcot-Marie-Tooth disease, type IA2 tests
  • Charcot-Marie-Tooth Neuropathy Type 2H/2K1 test
  • Charcot-Marie-Tooth Neuropathy X Type 51 test
  • Choreoacanthocytosis1 test
  • Christianson syndrome1 test
  • CHRNA1-Related Congenital Myasthenic Syndrome1 test
  • Chromosome 14q, partial deletions1 test
  • Chromosome 15, trisomy mosaicism1 test
  • Chromosome 16, uniparental disomy1 test
  • Chromosome 22 trisomy mosaic1 test
  • Ciliary dyskinesia, primary, 291 test
  • Citrullinemia type I1 test
  • Coenzyme Q10 deficiency, primary1 test
  • Coenzyme Q10 deficiency, primary 16 tests
  • Coffin-Lowry syndrome1 test
  • Coffin-Siris syndrome 11 test
  • Collagen VI-related myopathy1 test
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation1 test
  • Colorectal cancer1 test
  • Colorectal cancer 101 test
  • Colorectal cancer, susceptibility to, 121 test
  • Combined oxidative phosphorylation deficiency 11 test
  • Combined oxidative phosphorylation deficiency 101 test
  • Combined oxidative phosphorylation deficiency 121 test
  • Combined oxidative phosphorylation deficiency 21 test
  • Combined oxidative phosphorylation deficiency 31 test
  • Combined oxidative phosphorylation deficiency 41 test
  • Combined oxidative phosphorylation deficiency 71 test
  • Combined oxidative phosphorylation deficiency 81 test
  • Complete trisomy 13 syndrome1 test
  • Complete trisomy 18 syndrome1 test
  • Complete trisomy 21 syndrome1 test
  • Congenital aniridia1 test
  • Congenital bilateral absence of the vas deferens2 tests
  • Congenital Cataracts, Facial Dysmorphism, and Neuropathy1 test
  • Congenital central hypoventilation1 test
  • Congenital disorder of glycosylation type 1B1 test
  • Congenital disorder of glycosylation type 1C1 test
  • Congenital disorder of glycosylation type 1D1 test
  • Congenital disorder of glycosylation type 1I1 test
  • Congenital disorder of glycosylation type 1J1 test
  • Congenital disorder of glycosylation type 2C1 test
  • Congenital generalized lipodystrophy1 test
  • Congenital hypomyelinating neuropathy3 tests
  • Congenital muscular dystrophy7 tests
  • Congenital muscular dystrophy due to partial LAMA2 deficiency1 test
  • Congenital muscular dystrophy, LMNA-related2 tests
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B52 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A21 test
  • Congenital myasthenic syndrome11 tests
  • Congenital myasthenic syndrome 122 tests
  • Congenital myasthenic syndrome 131 test
  • Congenital myasthenic syndrome 1B, fast-channel2 tests
  • Congenital myasthenic syndrome, acetazolamide-responsive1 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
  • Cowden syndrome1 test
  • Creatine deficiency, X-linked2 tests
  • Cutaneous malignant melanoma 21 test
  • Cutaneous polyarteritis nodosa1 test
  • Cutis laxa, X-linked1 test
  • Cystic fibrosis3 tests
  • Danon disease1 test
  • De Lange syndrome1 test
  • Deafness, autosomal dominant 41 test
  • Deafness, nonsyndromic sensorineural, mitochondrial4 tests
  • Deafness, sensorineural, autosomal-mitochondrial type1 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
  • Diabetes mellitus AND insipidus with optic atrophy AND deafness2 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 1N1 test
  • Dilated cardiomyopathy 1S1 test
  • Dilated cardiomyopathy 3B2 tests
  • Disorder of cardiovascular system1 test
  • Disorder of fatty acid metabolism1 test
  • Distal arthrogryposis type 1A2 tests
  • Distal arthrogryposis type 2B2 tests
  • Distal hereditary motor neuronopathy type 2A1 test
  • Distal hereditary motor neuronopathy type 2B1 test
  • Distal hereditary motor neuronopathy type 2C1 test
  • Distal hereditary motor neuronopathy type 52 tests
  • Distal hereditary motor neuronopathy type 7B1 test
  • Distal spinal muscular atrophy, X-linked 31 test
  • Dominant hereditary optic atrophy2 tests
  • Drash syndrome1 test
  • Duchenne muscular dystrophy16 tests
  • Dysferlinopathy1 test
  • Dysmorphic features6 tests
  • Dystonia2 tests
  • Dystonia 11 test
  • Dystonia 101 test
  • Dystonia 121 test
  • Dystonia 5, Dopa-responsive type2 tests
  • Dystonia 6, torsion1 test
  • Dystrophinopathies1 test
  • Early infantile epileptic encephalopathy 111 test
  • Early infantile epileptic encephalopathy 141 test
  • Early infantile epileptic encephalopathy 21 test
  • Early infantile epileptic encephalopathy 415 tests
  • Early infantile epileptic encephalopathy 914 tests
  • Early myoclonic encephalopathy1 test
  • Ectopia lentis, isolated autosomal recessive3 tests
  • Ectopia lentis, isolated, autosomal dominant3 tests
  • Ehlers-Danlos syndrome, classic type1 test
  • Ehlers-Danlos syndrome, type 41 test
  • Eichsfeld type congenital muscular dystrophy3 tests
  • Emery-Dreifuss muscular dystrophy4 tests
  • Emery-Dreifuss muscular dystrophy 1, X-linked2 tests
  • Encephalopathy, acute, infection-induced, 3, suceptibility to1 test
  • Endplate acetylcholinesterase deficiency1 test
  • Epilepsy juvenile absence1 test
  • Epilepsy telangiectasia1 test
  • Epilepsy, childhood absence 12 tests
  • Epilepsy, childhood absence 21 test
  • Epilepsy, childhood absence 61 test
  • Epilepsy, familial adult myoclonic, 11 test
  • Epilepsy, focal, with speech disorder and with or without mental retardation1 test
  • Epilepsy, idiopathic generalized 81 test
  • Epilepsy, juvenile myoclonic 51 test
  • Epilepsy, juvenile myoclonic 71 test
  • Epilepsy, nocturnal frontal lobe, 51 test
  • Epileptic encephalopathy, childhood-onset1 test
  • Epileptic encephalopathy, early infantile, 16 tests
  • Epileptic encephalopathy, early infantile, 231 test
  • Epileptic encephalopathy, early infantile, 241 test
  • Episodic ataxia1 test
  • Episodic ataxia type 11 test
  • Episodic ataxia type 22 tests
  • Episodic pain syndrome, familial, 21 test
  • Episodic pain syndrome, familial, 31 test
  • Ethylmalonic encephalopathy1 test
  • Fabry disease1 test
  • Facioscapulohumeral muscular dystrophy 21 test
  • Familial adenomatous polyposis 11 test
  • Familial cancer of breast6 tests
  • Familial colorectal cancer4 tests
  • Familial episodic pain syndrome 11 test
  • Familial febrile seizures 81 test
  • Familial hemiplegic migraine1 test
  • Familial hemiplegic migraine type 11 test
  • Familial hemiplegic migraine type 21 test
  • Familial hemiplegic migraine type 314 tests
  • Familial hypertrophic cardiomyopathy 13 tests
  • Familial hypertrophic cardiomyopathy 101 test
  • Familial infantile myasthenia1 test
  • Familial multiple polyposis syndrome2 tests
  • Familial pancreatic carcinoma1 test
  • Fatal familial insomnia1 test
  • Febrile seizures, familial, 115 tests
  • Focal segmental glomerulosclerosis 13 tests
  • Focal segmental glomerulosclerosis 51 test
  • Foveal hypoplasia and presenile cataract syndrome1 test
  • Fragile X syndrome2 tests
  • Fragile X tremor/ataxia syndrome1 test
  • Friedreich ataxia 21 test
  • Frontotemporal dementia1 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
  • Fukuyama congenital muscular dystrophy1 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
  • Gerstmann-Straussler-Scheinker syndrome1 test
  • Giant axonal neuropathy1 test
  • Gilbert's syndrome1 test
  • Glaucoma 3, primary congenital, A3 tests
  • Glaucoma 3, primary congenital, d1 test
  • Glaucoma 3, primary infantile, b1 test
  • Global developmental delay6 tests
  • Glucose transporter type 1 deficiency syndrome3 tests
  • GLUT1 deficiency syndrome 110 tests
  • Glutaric aciduria, type 22 tests
  • Glycogen storage disease, type II1 test
  • Glycogen storage disease, type V1 test
  • Gorlin syndrome1 test
  • Hb SS disease1 test
  • Hemochromatosis type 11 test
  • Hemoglobin H1 test
  • Hemoglobin H disease, nondeletional1 test
  • Hemoglobinopathy2 tests
  • Hemorrhage, intracerebral, susceptibility to1 test
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts1 test
  • Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency3 tests
  • Hereditary breast and ovarian cancer syndrome2 tests
  • Hereditary cancer-predisposing syndrome8 tests
  • Hereditary diffuse gastric cancer5 tests
  • Hereditary diffuse leukoencephalopathy with spheroids1 test
  • Hereditary disease1 test
  • Hereditary hemorrhagic telangiectasia type 11 test
  • Hereditary hemorrhagic telangiectasia type 21 test
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary liability to pressure palsies2 tests
  • Hereditary motor and sensory neuropathy with optic atrophy1 test
  • Hereditary pancreatitis6 tests
  • Hereditary sensory and autonomic neuropathy type IC1 test
  • Hereditary sensory and autonomic neuropathy type II1 test
  • Hereditary sensory and autonomic neuropathy type IIA1 test
  • Hereditary sensory and autonomic neuropathy type IIB1 test
  • Hereditary sensory and autonomic neuropathy type IIC1 test
  • Hereditary sensory neuropathy type 1D1 test
  • Hereditary sensory neuropathy type IE1 test
  • Hereditary spastic paraplegia2 tests
  • Heterotopia, periventricular, autosomal recessive1 test
  • Holoprosencephaly 12 tests
  • Holoprosencephaly 22 tests
  • Huntington disease-like 11 test
  • Huntington's chorea1 test
  • Hutchinson-Gilford syndrome1 test
  • HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED1 test
  • Hypercholesterolemia, autosomal dominant, type B1 test
  • Hyperekplexia1 test
  • Hyperekplexia hereditary1 test
  • Hyperinsulinemic hypoglycemia, familial, 41 test
  • Hyperkalemic Periodic Paralysis Type 11 test
  • Hypocalcemia, autosomal dominant 11 test
  • Hypocalciuric hypercalcemia, familial, type 11 test
  • Hypochondroplasia1 test
  • Hypokalemic periodic paralysis 11 test
  • Hypokalemic periodic paralysis, type 21 test
  • Hypomyelination and Congenital Cataract1 test
  • Idiopathic generalized epilepsy18 tests
  • Immune dysfunction with T-cell inactivation due to calcium entry defect 21 test
  • Inclusion body myopathy 21 test
  • Inclusion body myopathy 31 test
  • Indifference to pain, congenital, autosomal recessive1 test
  • Infantile convulsions and paroxysmal choreoathetosis, familial1 test
  • Infantile liver failure syndrome 21 test
  • Infantile nystagmus, X-linked1 test
  • Infantile seizures1 test
  • Intellectual functioning disability6 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies1 test
  • Irido-corneo-trabecular dysgenesis3 tests
  • Jakob-Creutzfeldt disease1 test
  • Juvenile myoclonic epilepsy4 tests
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke3 tests
  • Juvenile polyposis syndrome2 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
  • Kabuki syndrome 11 test
  • Kabuki syndrome 21 test
  • KCNQ2-Related Disorders1 test
  • Kearns Sayre syndrome2 tests
  • Keratoconus 12 tests
  • Klippel-Feil syndrome 1, autosomal dominant1 test
  • Knobloch syndrome 11 test
  • Kuru, susceptibility to1 test
  • Lafora disease2 tests
  • LAMP2-Related Cardiomyopathy1 test
  • Learning difficulties6 tests
  • Leber congenital amaurosis 171 test
  • Leber's 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
  • Leukodystrophy1 test
  • Leukoencephalopathy1 test
  • Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation1 test
  • Leukoencephalopathy with vanishing white matter1 test
  • Li-Fraumeni syndrome9 tests
  • Li-Fraumeni syndrome 28 tests
  • Limb-Girdle Muscular Dystrophies, Autosomal Dominant3 tests
  • Limb-girdle muscular dystrophy7 tests
  • Limb-girdle muscular dystrophy, autosomal recessive1 test
  • Limb-girdle muscular dystrophy, type 1A1 test
  • Limb-girdle muscular dystrophy, type 1B2 tests
  • Limb-girdle muscular dystrophy, type 1C1 test
  • Limb-girdle muscular dystrophy, type 1E1 test
  • Limb-girdle muscular dystrophy, type 2A2 tests
  • Limb-girdle muscular dystrophy, type 2B1 test
  • Limb-girdle muscular dystrophy, type 2D2 tests
  • Limb-girdle muscular dystrophy, type 2E1 test
  • Limb-girdle muscular dystrophy, type 2F1 test
  • Limb-girdle muscular dystrophy, type 2G1 test
  • Limb-girdle muscular dystrophy, type 2L1 test
  • Limb-girdle muscular dystrophy, type 2Q1 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C51 test
  • Lipodystrophy, congenital generalized, type 41 test
  • Lissencephaly 13 tests
  • Lissencephaly 2, X-linked1 test
  • Lissencephaly, X-linked2 tests
  • Liver failure acute infantile1 test
  • Loeys-Dietz syndrome 31 test
  • 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 I1 test
  • Lynch syndrome II1 test
  • Malignant hyperthermia susceptibility1 test
  • Malignant hyperthermia, susceptibility to, 11 test
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome1 test
  • Marfan syndrome3 tests
  • Marshall-Smith syndrome1 test
  • Maturity-onset diabetes of the young, type 21 test
  • McLeod neuroacanthocytosis syndrome1 test
  • MECP2 duplication syndrome9 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
  • Melanoma, cutaneous malignant, susceptibility to, 101 test
  • Meningioma, familial1 test
  • Menkes kinky-hair syndrome1 test
  • Mental retardation, autosomal dominant 131 test
  • Mental retardation, autosomal dominant 161 test
  • Mental retardation, autosomal dominant 91 test
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1 test
  • Mental retardation, with or without seizures, ARX-related, X-linked2 tests
  • Mental retardation, X-linked 11 test
  • Mental retardation, X-linked, syndromic 1312 tests
  • Mental retardation-hypotonic facies syndrome X-linked, 12 tests
  • Merosin deficient congenital muscular dystrophy2 tests
  • MERRF/MELAS overlap syndrome1 test
  • Microcephaly, normal intelligence and immunodeficiency1 test
  • Microphthalmia syndromic 31 test
  • Microphthalmia syndromic 41 test
  • Microphthalmia, isolated 31 test
  • Microphthalmia, isolated 41 test
  • Microphthalmia, isolated, with coloboma 61 test
  • Microphthalmia/coloboma and skeletal dysplasia syndrome1 test
  • Migraine14 tests
  • Minicore myopathy1 test
  • Mitochondrial complex I deficiency3 tests
  • Mitochondrial complex II deficiency3 tests
  • Mitochondrial complex III deficiency4 tests
  • Mitochondrial complex III deficiency, nuclear type 21 test
  • Mitochondrial diseases32 tests
  • Mitochondrial DNA Deletion Syndromes2 tests
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)3 tests
  • Mitochondrial DNA depletion syndrome 111 test
  • Mitochondrial DNA depletion syndrome 21 test
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)2 tests
  • Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form2 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy1 test
  • Mitochondrial DNA depletion syndrome, hepatocerebral form2 tests
  • Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
  • Mitochondrial myopathy12 tests
  • Mitochondrial myopathy with diabetes1 test
  • Mitochondrial phosphate carrier deficiency1 test
  • Mitochondrial trifunctional protein deficiency2 tests
  • Miyoshi muscular dystrophy 11 test
  • Miyoshi muscular dystrophy 31 test
  • Mowat-Wilson syndrome1 test
  • Moyamoya disease 11 test
  • Moyamoya disease 51 test
  • MTHFR deficiency, thermolabile type1 test
  • Muenke syndrome1 test
  • Multiminicore Disease2 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 Diseases18 tests
  • Muscular dystrophy, congenital, megaconial type1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
  • Myasthenia, limb-girdle, familial2 tests
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency6 tests
  • Myasthenic syndrome, slow-channel congenital2 tests
  • MYH-associated polyposis1 test
  • Myoclonic dystonia1 test
  • Myoclonus with epilepsy with ragged red fibers1 test
  • Myofibrillar myopathy6 tests
  • Myofibrillar myopathy, BAG3-related1 test
  • Myofibrillar myopathy, filamin C-related1 test
  • Myofibrillar myopathy, ZASP-related1 test
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Myopathy with lactic acidosis, hereditary1 test
  • Myopathy with postural muscle atrophy, X-linked2 tests
  • Myopathy with tubular aggregates1 test
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset1 test
  • Myopathy, Central Core2 tests
  • Myopathy, centronuclear, 118 tests
  • Myopathy, distal, 11 test
  • Myopathy, distal, 41 test
  • Myopathy, distal, with anterior tibial onset1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 12 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 21 test
  • Myosin storage myopathy1 test
  • Myositis1 test
  • Myotilinopathy1 test
  • Myotonia congenita1 test
  • Myotonic dystrophy type 21 test
  • Myotubular myopathy1 test
  • Navajo neurohepatopathy1 test
  • Nemaline myopathy8 tests
  • Nemaline myopathy 11 test
  • Nemaline myopathy 21 test
  • Nemaline myopathy 31 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 diabetes mellitus1 test
  • Neonatal severe hyperparathyroidism1 test
  • Neoplasm of the breast3 tests
  • Neurodegeneration with brain iron accumulation1 test
  • Neuromyotonia and axonal neuropathy, autosomal recessive1 test
  • Neuronopathy, distal hereditary motor, type I1 test
  • Neuropathy hereditary sensory and autonomic type 11 test
  • Neuropathy, hereditary sensory and autonomic, type VII1 test
  • Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive1 test
  • Neutral lipid storage disease with myopathy1 test
  • Nicolaides-Baraitser syndrome1 test
  • Non-syndromic X-linked intellectual disability1 test
  • Nonaka myopathy1 test
  • Noonan syndrome2 tests
  • Noonan syndrome 11 test
  • Noonan syndrome 31 test
  • Noonan syndrome 41 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 11 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 21 test
  • Ocular albinism, type I1 test
  • Oculocutaneous albinism type 1B1 test
  • Oculocutaneous albinism type 41 test
  • Oculopharyngeal muscular dystrophy1 test
  • Oculopharyngodistal myopathy1 test
  • Oligodontia-colorectal cancer syndrome1 test
  • Opitz G/BBB syndrome1 test
  • Opitz-Frias syndrome1 test
  • Optic atrophy1 test
  • Optic atrophy 71 test
  • Optic atrophy and cataract, autosomal dominant1 test
  • Ovarian cancer1 test
  • Pancreatic cancer 11 test
  • Paragangliomas 11 test
  • Paragangliomas 31 test
  • Paragangliomas 41 test
  • Paramyotonia congenita of von Eulenburg1 test
  • Paroxysmal extreme pain disorder1 test
  • Partington X-linked mental retardation syndrome1 test
  • Pearson marrow-pancreas syndrome2 tests
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss1 test
  • Perry syndrome1 test
  • Peters plus syndrome1 test
  • Peutz-Jeghers syndrome4 tests
  • Phosphoglycerate dehydrogenase 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
  • Polycystic kidney disease, autosomal dominant1 test
  • Polymicrogyria, bilateral frontoparietal1 test
  • 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 15 tests
  • Porencephaly 21 test
  • Porphyria1 test
  • Potassium aggravated myotonia4 tests
  • Prader-Willi syndrome2 tests
  • Premature ovarian failure 11 test
  • Primary dilated cardiomyopathy6 tests
  • Primary erythromelalgia1 test
  • Primary familial hypertrophic cardiomyopathy2 tests
  • Primary pulmonary hypertension1 test
  • Primary pulmonary hypertension 21 test
  • Progressive external ophthalmoplegia3 tests
  • Progressive familial intrahepatic cholestasis 21 test
  • Proud Levine Carpenter syndrome1 test
  • Pseudohypoaldosteronism type 1 autosomal recessive1 test
  • Pseudohypoaldosteronism type 2C1 test
  • PTEN hamartoma tumor syndrome2 tests
  • Pyridoxal 5'-phosphate-dependent epilepsy1 test
  • Pyridoxine-dependent epilepsy1 test
  • Pyruvate dehydrogenase complex deficiency2 tests
  • Pyruvate dehydrogenase E1-alpha deficiency1 test
  • Pyruvate dehydrogenase E3-binding protein deficiency1 test
  • Rasopathy1 test
  • Recurrent myoglobinuria1 test
  • Renal cell carcinoma, nonpapillary1 test
  • Renal cell carcinoma, papillary, 11 test
  • Rett syndrome11 tests
  • Rett syndrome, congenital variant15 tests
  • Rhabdoid tumor predisposition syndrome 11 test
  • Rhabdoid tumor predisposition syndrome 21 test
  • Russell-Silver syndrome3 tests
  • Sarcotubular myopathy1 test
  • Scapuloperoneal myopathy, MYH7-related1 test
  • Schaaf-yang syndrome1 test
  • SCHIZENCEPHALY1 test
  • Schwannomatosis 11 test
  • Schwannomatosis 21 test
  • Segawa syndrome, autosomal recessive1 test
  • Seizures1 test
  • Seizures, benign familial infantile, 21 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis21 tests
  • Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
  • Severe myoclonic epilepsy in infancy15 tests
  • Severe neonatal-onset encephalopathy with microcephaly8 tests
  • Severe X-linked myotubular myopathy1 test
  • Shprintzen syndrome1 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 due to imprinting defect of 11p152 tests
  • Slowed nerve conduction velocity, autosomal dominant1 test
  • Smith-Magenis syndrome1 test
  • Sotos syndrome1 test
  • Sotos syndrome 11 test
  • Sotos syndrome 21 test
  • Spastic paraplegia 11, autosomal recessive1 test
  • Spastic paraplegia 172 tests
  • Spastic paraplegia 31 test
  • Spastic paraplegia 30, autosomal recessive1 test
  • Spastic paraplegia 4, autosomal dominant1 test
  • Spastic paraplegia 53, autosomal recessive1 test
  • Spastic paraplegia 55, autosomal recessive1 test
  • Spastic paraplegia 5A1 test
  • Spastic paraplegia 71 test
  • Spermatogenic failure, Y-linked 21 test
  • Spheroid body myopathy1 test
  • Spinal muscular atrophy2 tests
  • Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1 test
  • Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant1 test
  • Spinal muscular atrophy, type II1 test
  • Spinal muscular atrophy, X-linked 21 test
  • Spinocerebellar ataxia 11 test
  • Spinocerebellar ataxia 131 test
  • Spinocerebellar ataxia 171 test
  • Spinocerebellar ataxia 181 test
  • Spinocerebellar ataxia 21 test
  • Spinocerebellar ataxia 61 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia 81 test
  • Spinocerebellar ataxia autosomal recessive 11 test
  • Spinocerebellar ataxia, autosomal recessive 101 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 mental retardation, Cabezas type1 test
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • Temple syndrome2 tests
  • Thalassemia2 tests
  • Thalassemia intermedia1 test
  • Thanatophoric dysplasia type 12 tests
  • Thoracic aortic aneurysm and aortic dissection1 test
  • Thrombophilia due to activated protein C resistance1 test
  • Transient neonatal diabetes mellitus 12 tests
  • Transitory neonatal diabetes mellitus2 tests
  • Trifunctional protein deficiency with myopathy and neuropathy2 tests
  • Tumor susceptibility linked to germline BAP1 mutations1 test
  • Turcot syndrome4 tests
  • Ullrich congenital muscular dystrophy 21 test
  • Uniparental disomy of 71 test
  • Uniparental disomy, paternal, chromosome 141 test
  • Unverricht-Lundborg syndrome1 test
  • Usher syndrome, type 3B1 test
  • Vasculopathy, retinal, with cerebral leukodystrophy1 test
  • Venous thrombosis1 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 syndrome 11 test
  • Weill-Marchesani syndrome 31 test
  • Weill-Marchesani-like syndrome1 test
  • Werdnig-Hoffmann disease2 tests
  • West syndrome14 tests
  • WFS1-Related Disorders2 tests
  • Wiedemann-Steiner syndrome1 test
  • Williams syndrome1 test
  • Williams-Beuren region duplication syndrome1 test
  • Wilms tumor 11 test
  • Wolfram syndrome 21 test
  • Wolfram-like syndrome, autosomal dominant1 test
  • X inactivation, familial skewed, 11 test
  • X inactivation, familial skewed, 21 test
  • X-linked agammaglobulinemia1 test
  • X-linked hereditary motor and sensory neuropathy1 test
  • X-linked ichthyosis with steryl-sulfatase deficiency1 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

List of certifications/licenses

Certifications

  • DAkkS, Number: D-ML-13242-01-00, Expiration date: 2022-08-16

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.

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