MGZ Medical Genetics Center

Personnel

Director: Angela Abicht, MD, Lab Director
Phone: +49 8930908860
Fax: +49 89309088666
Email: info@mgz-muenchen.de
Director: Elke Holinski-Feder, MD, Lab Director
Phone: +49 8930908860
Fax: +49 89309088666
Email: info@mgz-muenchen.de
Director: Teresa Neuhann, MD, Lab Director
Phone: +49 8930908860
Fax: +49 89309088666
Email: ClinVar_submissions@mgz-muenchen.de
Birgit Neitzel, Lab Associate Director
Phone: +49 8930908860
Fax: +49 89309088666
Email: neitzel@mgz-muenchen.de
Kerstin Becker, MD, Genetic Counselor
Phone: +49 8930908860
Fax: +49 89309088666
Email: kerstin.becker@mgz-muenchen.de
Anne Behnecke, MD, Genetic Counselor
Phone: +49 89 30908860
Fax: +49 89 309088666
Email: anne.behnecke@mgz-muenchen.de
Anna Benet-Pages, PhD, Lab Associate Director
Phone: +49 8930908860
Fax: +49 89309088666
Email: benet-pages@mgz-muenchen.de
Isabel Diebold, MD, Genetic Counselor
Phone: +49 8930908860
Fax: +49 89309088666
Email: isabel.diebold@mgz-muenchen.de
Christian Gebhard, MD, Genetic Counselor
Phone: +49 89 30908860
Fax: +49 89 309088666
Email: christian.gebhard@mgz-muenchen.de
Stephanie Kleinle, PhD, Staff
Phone: +49 8930908860
Fax: +49 89309088666
Email: kleinle@mgz-muenchen.de
Udo Koehler, PhD, Lab Associate Director
Phone: +49 8930908860
Fax: +49 89309088666
Email: koehler@mgz-muenchen.de
Andreas Laner, PhD, Staff
Phone: +49 8930908860
Fax: +49 89309088666
Email: laner@mgz-muenchen.de
Melanie Locher, PhD, Lab Associate Director
Phone: +49 8930908860
Fax: +49 89309088666
Email: locher@mgz-muenchen.de
Silja Robling, MD, Genetic Counselor
Phone: +49 8930908860
Fax: +49 89309088666
Email: Silja.Robling@mgz-muenchen.de
Ulrike Schön, PhD, Staff
Phone: +49 8930908860
Fax: +49 89309088666
Email: schoen@mgz-muenchen.de
Miriam Stampfer, MD, Genetic Counselor
Phone: +49 8930908860
Fax: +49 89309088666
Email: miriam.stampfer@mgz-muenchen.de
Verena Steinke-Lange, MD, Genetic Counselor
Phone: +49 8930908860
Fax: +49 89309088666
Email: verena.steinke-lange@mgz-muenchen.de

Conditions and tests

737 conditions/phenotypes with 650 tests
Enter text to narrow down the list

3-Methylglutaconic aciduria type 22 tests
4p partial monosomy syndrome1 test
5p partial monosomy syndrome1 test
7q11.23 microduplication syndrome1 test
Absence seizure1 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
Amyloidosis, hereditary systemic 11 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
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 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
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
Birt-Hogg-Dube syndrome1 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 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
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 232 tests
Congenital myopathy 4B, autosomal recessive1 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
Cystic fibrosis3 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
Down syndrome1 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
Emery-Dreifuss muscular dystrophy 2, autosomal dominant3 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 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
Fabry disease1 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 hyperkalemic periodic paralysis1 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 stromal 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 Bart hydrops syndrome1 test
Hemoglobin H disease1 test
Hemoglobin H disease, nondeletional1 test
Hemoglobinopathy2 tests
Hemorrhage, intracerebral, susceptibility to1 test
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 leiomyomatosis and renal cell cancer1 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 12 tests
Holoprosencephaly 22 tests
Huntington disease1 test
Huntington disease-like 11 test
Hutchinson-Gilford syndrome1 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hyperekplexia1 test
Hyperekplexia 11 test
Hyperinsulinemic hypoglycemia, familial, 41 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
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 disorder1 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, 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
Mismatch repair cancer syndrome 14 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 IV deficiency, nuclear type 13 tests
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 15 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 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, myopathic form1 test
Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
Mitochondrial myopathy with diabetes1 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 endocrine neoplasia type 2A3 tests
Multiple endocrine neoplasia, type 14 tests
Multiple endocrine neoplasia, type 21 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 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
Myoglobinuria, recurrent1 test
Myopathy18 tests
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
Myositis disease1 test
Myotonia fluctuans3 tests
Myotonic dystrophy type 21 test
Nemaline myopathy8 tests
Nemaline myopathy 21 test
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, autosomal dominant 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
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
Partial deletion of the long arm of chromosome 141 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 disorder17 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 myotonia1 test
Prader-Willi syndrome1 test
Prader-Willi-like 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
Pseudohypoaldosteronism, type IB1, autosomal recessive1 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
Russell-Silver syndrome2 tests
Sarcotubular myopathy1 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 syndrome2 tests
Spermatogenic failure, Y-linked, 21 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
Trisomy 181 test
Tumor predisposition syndrome 31 test
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 myopathy 11 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.