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GTR Home > Laboratories > MVZ Dr. Eberhard & Partner Dortmund

MVZ Dr. Eberhard & Partner Dortmund

GTR Lab ID: 320136, Last updated:2022-12-23

Personnel

  • Director: Annemarie Schwan, MD, Lab Director
    Phone: +49 231 9572 7461
    Email: schwan@labmed.de
  • Stefanie Schön, MD, Genetic Counselor
    Phone: +49 2319572315
    Fax: +49 231957218315
    Email: schoen@labmed.de
  • Judith Kötting, MD, Genetic Counselor
    Phone: +49 231 9572 231
    Email: koetting@labmed.de

Conditions and tests

  • 11p partial monosomy syndrome1 test
  • 3-Methylglutaconic aciduria type 31 test
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • Adrenoleukodystrophy1 test
  • Adult-onset autosomal dominant demyelinating leukodystrophy1 test
  • alpha Thalassemia1 test
  • Alpha thalassemia-X-linked intellectual disability syndrome1 test
  • Alpha-1-antitrypsin deficiency1 test
  • Alternating hemiplegia of childhood 11 test
  • Alzheimer disease 31 test
  • Alzheimer disease 41 test
  • Alzheimer disease type 11 test
  • Andersen Tawil syndrome1 test
  • Angelman syndrome4 tests
  • Angiokeratoma corporis diffusum2 tests
  • Aniridia 11 test
  • Arrhythmogenic right ventricular dysplasia 121 test
  • Arrhythmogenic right ventricular dysplasia 21 test
  • Arrhythmogenic right ventricular dysplasia 51 test
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 131 test
  • Atrial fibrillation, familial, 31 test
  • Atrial fibrillation, familial, 61 test
  • Atrial fibrillation, familial, 71 test
  • Atrial standstill 11 test
  • Atrial standstill 21 test
  • Atrioventricular septal defect 31 test
  • Autoimmune lymphoproliferative syndrome type 42 tests
  • Autosomal dominant centronuclear myopathy1 test
  • Autosomal dominant distal renal tubular acidosis1 test
  • Autosomal dominant hypocalcemia 11 test
  • Autosomal dominant keratitis1 test
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome2 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)3 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1F2 tests
  • Autosomal dominant optic atrophy classic form1 test
  • Autosomal dominant polycystic kidney disease1 test
  • Autosomal recessive distal renal tubular acidosis1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2A2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2C3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2I2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2K2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2L3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2M3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2N3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2P1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
  • Autosomal recessive nonsyndromic hearing loss 1A1 test
  • Autosomal recessive optic atrophy, OPA7 type1 test
  • Autosomal recessive polycystic kidney disease1 test
  • Azorean disease1 test
  • Bannayan-Riley-Ruvalcaba syndrome3 tests
  • Bardet-Biedl syndrome1 test
  • Bardet-Biedl syndrome 101 test
  • Bardet-Biedl syndrome 112 tests
  • Bardet-Biedl syndrome 121 test
  • Bardet-Biedl syndrome 131 test
  • Bardet-Biedl syndrome 21 test
  • Bardet-Biedl syndrome 61 test
  • Bardet-Biedl syndrome 91 test
  • Becker muscular dystrophy1 test
  • Beckwith-Wiedemann syndrome2 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy5 tests
  • beta Thalassemia1 test
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency1 test
  • Brugada syndrome 13 tests
  • Brugada syndrome 22 tests
  • Brugada syndrome 32 tests
  • Brugada syndrome 42 tests
  • Brugada syndrome 52 tests
  • Brugada syndrome 62 tests
  • Brugada syndrome 72 tests
  • Brugada syndrome 82 tests
  • Brugada syndrome 91 test
  • Carcinoma of colon2 tests
  • Carcinoma of pancreas5 tests
  • Cardiac arrhythmia, ankyrin-B-related2 tests
  • Cardiofaciocutaneous syndrome 22 tests
  • Cardiomyopathy, familial restrictive, 11 test
  • Cardiomyopathy, familial restrictive, 32 tests
  • Catecholaminergic polymorphic ventricular tachycardia 11 test
  • Catecholaminergic polymorphic ventricular tachycardia 22 tests
  • Catecholaminergic polymorphic ventricular tachycardia 42 tests
  • Catecholaminergic polymorphic ventricular tachycardia 52 tests
  • Caveolinopathy1 test
  • Cerebral amyloid angiopathy, APP-related1 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 12 tests
  • Charcot-Marie-Tooth disease dominant intermediate B1 test
  • Charcot-Marie-Tooth disease dominant intermediate D2 tests
  • Charcot-Marie-Tooth disease type 1B2 tests
  • Charcot-Marie-Tooth disease type 1C1 test
  • Charcot-Marie-Tooth disease type 1D2 tests
  • Charcot-Marie-Tooth disease type 1E1 test
  • Charcot-Marie-Tooth disease type 1F2 tests
  • Charcot-Marie-Tooth disease type 2A21 test
  • Charcot-Marie-Tooth disease type 2B12 tests
  • Charcot-Marie-Tooth disease type 2E2 tests
  • Charcot-Marie-Tooth disease type 2I2 tests
  • Charcot-Marie-Tooth disease type 2J2 tests
  • Charcot-Marie-Tooth disease type 4E2 tests
  • Charcot-Marie-Tooth disease X-linked dominant 11 test
  • Charcot-Marie-Tooth disease, type IA1 test
  • Childhood apraxia of speech1 test
  • Childhood onset GLUT1 deficiency syndrome 22 tests
  • Chromosome 1p36 deletion syndrome1 test
  • Ciliary dyskinesia7 tests
  • Classic homocystinuria1 test
  • CLOVES syndrome1 test
  • Colchicine resistance1 test
  • Coloboma of optic nerve1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
  • Congenital contractural arachnodactyly1 test
  • Congenital muscular dystrophy due to LMNA mutation1 test
  • Congenital ocular coloboma1 test
  • Conotruncal anomaly face syndrome1 test
  • Costello syndrome3 tests
  • Cowden syndrome 12 tests
  • Cowden syndrome 51 test
  • Cranioectodermal dysplasia 41 test
  • Crouzon syndrome-acanthosis nigricans syndrome1 test
  • CYP2C19-related poor drug metabolism1 test
  • Cystic fibrosis1 test
  • Deficiency of butyrylcholinesterase1 test
  • Deficiency of ferroxidase1 test
  • Dejerine-Sottas disease3 tests
  • Desmin-related myofibrillar myopathy3 tests
  • Developmental and epileptic encephalopathy, 111 test
  • Developmental and epileptic encephalopathy, 21 test
  • Developmental and epileptic encephalopathy, 71 test
  • Developmental and epileptic encephalopathy, 91 test
  • DFNA 3 Nonsyndromic Hearing Loss and Deafness1 test
  • Diabetes insipidus, nephrogenic, X-linked1 test
  • Diabetes mellitus, transient neonatal, 11 test
  • Diabetes-deafness syndrome maternally transmitted1 test
  • DiGeorge syndrome1 test
  • Dilated cardiomyopathy 1A3 tests
  • Dilated cardiomyopathy 1D4 tests
  • Dilated cardiomyopathy 1E1 test
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1I2 tests
  • Dilated cardiomyopathy 1L2 tests
  • Dilated cardiomyopathy 1S3 tests
  • Dilated cardiomyopathy 1X1 test
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
  • Disorder due cytochrome p450 CYP2D6 variant1 test
  • Disorder of cardiovascular system1 test
  • Distal myopathy with anterior tibial onset1 test
  • Duchenne muscular dystrophy4 tests
  • Dystonia 92 tests
  • Early-onset generalized limb-onset dystonia1 test
  • Ectopia lentis 1, isolated, autosomal dominant1 test
  • Efavirenz response1 test
  • Ehlers-Danlos syndrome1 test
  • Ehlers-Danlos syndrome type 7A1 test
  • Ehlers-Danlos syndrome type 7B1 test
  • Ehlers-Danlos syndrome, classic type1 test
  • Ehlers-Danlos syndrome, type 41 test
  • Elliptocytosis 21 test
  • Elliptocytosis 31 test
  • Encephalopathy due to GLUT1 deficiency4 tests
  • Epidermal nevus2 tests
  • Episodic ataxia type 11 test
  • Episodic ataxia type 22 tests
  • Factor VII deficiency1 test
  • Familial hypercholesterolemia2 tests
  • Familial hypocalciuric hypercalcemia 11 test
  • Familial partial lipodystrophy, Dunnigan type2 tests
  • Febrile seizures, familial, 81 test
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome1 test
  • Fibromatosis, gingival, 11 test
  • Floating-Harbor syndrome3 tests
  • Foveal hypoplasia 11 test
  • Fragile X syndrome2 tests
  • Fragile X-associated tremor/ataxia syndrome1 test
  • Friedreich ataxia 13 tests
  • Frontotemporal dementia1 test
  • Fructose-biphosphatase deficiency1 test
  • Gastrointestinal stroma tumor2 tests
  • Gaucher disease1 test
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Gillespie syndrome1 test
  • Gnathodiaphyseal dysplasia1 test
  • GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
  • Hb SS disease1 test
  • Heart-hand syndrome, Slovenian type1 test
  • Hemochromatosis type 11 test
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemoglobin E1 test
  • Hemoglobin H disease1 test
  • Hemosiderosis, systemic, due to aceruloplasminemia1 test
  • Hepatocellular carcinoma1 test
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary antithrombin deficiency1 test
  • Hereditary diffuse gastric adenocarcinoma1 test
  • Hereditary elliptocytosis2 tests
  • Hereditary fructosuria1 test
  • Hereditary hyperferritinemia with congenital cataracts1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary palmoplantar keratoderma2 tests
  • Hereditary pancreatitis1 test
  • Hereditary spherocytosis1 test
  • Hereditary spherocytosis type 21 test
  • Hereditary spherocytosis type 31 test
  • Hereditary spherocytosis type 41 test
  • Huntington disease1 test
  • Hutchinson-Gilford syndrome1 test
  • HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED1 test
  • Hypercholesterolemia, autosomal dominant, 31 test
  • Hypercholesterolemia, autosomal dominant, type B1 test
  • Hypercholesterolemia, familial, 13 tests
  • Hypercholesterolemia, familial, 41 test
  • Hypertrophic cardiomyopathy 13 tests
  • Hypertrophic cardiomyopathy 22 tests
  • Hypertrophic cardiomyopathy 251 test
  • Hypertrophic cardiomyopathy 42 tests
  • Hypertrophic cardiomyopathy 71 test
  • Hypochondroplasia1 test
  • Ichthyosis, hystrix-like, with hearing loss2 tests
  • IMAGe syndrome1 test
  • Inflammatory bowel disease 11 test
  • Inflammatory bowel disease 131 test
  • Inherited prion disease1 test
  • Irido-corneo-trabecular dysgenesis1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Kartagener syndrome7 tests
  • Kennedy disease1 test
  • Ketoacidosis due to monocarboxylate transporter-1 deficiency1 test
  • Kugelberg-Welander disease2 tests
  • Langer mesomelic dysplasia syndrome1 test
  • Large congenital melanocytic nevus1 test
  • Leber optic atrophy1 test
  • Left ventricular noncompaction 101 test
  • Leri-Weill dyschondrosteosis1 test
  • Lethal tight skin contracture syndrome1 test
  • Limb-girdle muscular dystrophy due to POMK deficiency1 test
  • Linear nevus sebaceous syndrome5 tests
  • Loeys-Dietz syndrome 11 test
  • Loeys-Dietz syndrome 21 test
  • Long QT syndrome 13 tests
  • Long QT syndrome 102 tests
  • Long QT syndrome 112 tests
  • Long QT syndrome 122 tests
  • Long QT syndrome 132 tests
  • Long QT syndrome 141 test
  • Long QT syndrome 151 test
  • Long QT syndrome 23 tests
  • Long QT syndrome 31 test
  • Long QT syndrome 53 tests
  • Long QT syndrome 62 tests
  • Long QT syndrome 92 tests
  • Loricrin keratoderma2 tests
  • Lung carcinoma3 tests
  • Lynch syndrome 11 test
  • Macrocephaly-autism syndrome4 tests
  • Malan overgrowth syndrome1 test
  • Malignant tumor of testis2 tests
  • Malignant tumor of urinary bladder1 test
  • Mandibuloacral dysplasia1 test
  • Mandibuloacral dysplasia with type A lipodystrophy1 test
  • Marfan syndrome1 test
  • Marshall-Smith syndrome1 test
  • MASA syndrome1 test
  • MASS syndrome1 test
  • Maturity-onset diabetes of the young type 11 test
  • Maturity-onset diabetes of the young type 21 test
  • Maturity-onset diabetes of the young type 31 test
  • Maturity-onset diabetes of the young type 41 test
  • Meckel syndrome, type 11 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
  • Melanoma and neural system tumor syndrome1 test
  • Melanoma, cutaneous malignant, susceptibility to, 11 test
  • Melanoma, cutaneous malignant, susceptibility to, 21 test
  • Melanoma, cutaneous malignant, susceptibility to, 32 tests
  • Melanoma-pancreatic cancer syndrome1 test
  • Metachromatic leukodystrophy1 test
  • Microcephaly 5, primary, autosomal recessive2 tests
  • Microvascular complications of diabetes, susceptibility to, 51 test
  • Microvascular complications of diabetes, susceptibility to, 61 test
  • Migraine, familial hemiplegic, 12 tests
  • Migraine, familial hemiplegic, 22 tests
  • Migraine, familial hemiplegic, 32 tests
  • Miller Dieker syndrome2 tests
  • Miyoshi muscular dystrophy 11 test
  • Miyoshi muscular dystrophy 31 test
  • MTHFR THERMOLABILE POLYMORPHISM1 test
  • Muenke syndrome1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A91 test
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41 test
  • Muscular dystrophy-dystroglycanopathy type B51 test
  • MYH7-related late-onset scapuloperoneal muscular dystrophy2 tests
  • MYH7-related skeletal myopathy2 tests
  • Myofibrillar myopathy 32 tests
  • Myosin storage myopathy2 tests
  • Myotonic dystrophy type 22 tests
  • Neonatal severe primary hyperparathyroidism1 test
  • Neoplasm of ovary1 test
  • Neoplasm of stomach1 test
  • Nephrogenic syndrome of inappropriate antidiuresis1 test
  • Neurocutaneous melanocytosis1 test
  • Neurodegeneration with brain iron accumulation2 tests
  • Neuroferritinopathy1 test
  • Neurofibromatosis, type 11 test
  • Neurofibromatosis, type 21 test
  • Neurogenic scapuloperoneal syndrome, Kaeser type1 test
  • Nonpersistence of intestinal lactase1 test
  • Noonan syndrome 11 test
  • Noonan syndrome 32 tests
  • Noonan syndrome 41 test
  • Noonan syndrome 51 test
  • Noonan syndrome 62 tests
  • Obesity1 test
  • Obesity due to congenital leptin deficiency1 test
  • Obesity due to leptin receptor gene deficiency1 test
  • Obesity due to pro-opiomelanocortin deficiency2 tests
  • Oculopharyngeal muscular dystrophy2 tests
  • Optic atrophy 31 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
  • Optic nerve hypoplasia, bilateral1 test
  • Osteogenesis imperfecta1 test
  • Panic disorder 11 test
  • Paternal uniparental disomy of chromosome 141 test
  • Pendred syndrome1 test
  • Peutz-Jeghers syndrome3 tests
  • Phelan-McDermid syndrome1 test
  • Pigmentary pallidal degeneration1 test
  • Pitt-Hopkins-like syndrome 22 tests
  • Platelet-type bleeding disorder 91 test
  • Polycystic kidney disease 24 tests
  • Polycystic kidney disease, adult type3 tests
  • Potocki-Lupski syndrome1 test
  • Prader-Willi syndrome1 test
  • Premature ovarian failure 11 test
  • Primary ciliary dyskinesia 101 test
  • Primary ciliary dyskinesia 111 test
  • Primary ciliary dyskinesia 121 test
  • Primary ciliary dyskinesia 141 test
  • Primary ciliary dyskinesia 151 test
  • Primary ciliary dyskinesia 31 test
  • Primary ciliary dyskinesia 71 test
  • Primary ciliary dyskinesia 91 test
  • Progressive familial heart block type IB2 tests
  • Pyropoikilocytosis, hereditary1 test
  • Renal cysts and diabetes syndrome2 tests
  • Rett syndrome3 tests
  • Rippling muscle disease 23 tests
  • Rubinstein-Taybi syndrome due to CREBBP mutations3 tests
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3 tests
  • Sarcotubular myopathy3 tests
  • Schizophrenia1 test
  • Seborrheic keratosis1 test
  • Seizures, benign familial infantile, 31 test
  • Seizures, benign familial neonatal, 11 test
  • Seizures, benign familial neonatal, 22 tests
  • Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
  • Severe myoclonic epilepsy in infancy2 tests
  • Severe neonatal-onset encephalopathy with microcephaly2 tests
  • Short QT syndrome type 11 test
  • Short QT syndrome type 21 test
  • Short QT syndrome type 32 tests
  • SHOX-related short stature1 test
  • Shprintzen-Goldberg syndrome1 test
  • Shwachman-Diamond syndrome 11 test
  • Sick sinus syndrome 11 test
  • Sick sinus syndrome 2, autosomal dominant1 test
  • Sickle cell-beta-thalassemia1 test
  • Sickle cell-hemoglobin C disease1 test
  • Sickle cell-hemoglobin D disease1 test
  • Sickle cell-Hemoglobin O Arab disease1 test
  • Silver-Russell syndrome 13 tests
  • Silver-Russell syndrome due to an imprinting defect of 11p151 test
  • Slow acetylator due to N-acetyltransferase enzyme variant1 test
  • Smith-Magenis syndrome2 tests
  • Sotos syndrome 12 tests
  • Southeast Asian ovalocytosis1 test
  • Spinal muscular atrophy, type II2 tests
  • Spinal muscular atrophy, type IV2 tests
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 19/222 tests
  • Spinocerebellar ataxia type 21 test
  • Spinocerebellar ataxia type 61 test
  • Spinocerebellar ataxia type 81 test
  • Squamous cell carcinoma of the head and neck1 test
  • Steinert myotonic dystrophy syndrome2 tests
  • Syndromic X-linked intellectual disability Lubs type2 tests
  • Thanatophoric dysplasia type 11 test
  • Thanatophoric dysplasia, type 21 test
  • Thrombophilia due to activated protein C resistance1 test
  • Thrombophilia due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia due to protein S deficiency, autosomal dominant1 test
  • Thrombophilia due to thrombin defect1 test
  • Thyroid cancer, nonmedullary, 22 tests
  • Timothy syndrome1 test
  • Transcription level of plasminogen activator inhibitor 11 test
  • VACTERL with hydrocephalus2 tests
  • Velocardiofacial syndrome1 test
  • Ventricular fibrillation, paroxysmal familial, 21 test
  • Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
  • Vitamin K-dependent clotting factors, combined deficiency of, type 21 test
  • von Willebrand disease type 11 test
  • von Willebrand disease type 21 test
  • Von Willebrand disease type 2A1 test
  • Von Willebrand disease type 2B1 test
  • von Willebrand disease type 2M1 test
  • von Willebrand disease type 2N1 test
  • von Willebrand disease type 31 test
  • von Willebrand disorder1 test
  • Warfarin response1 test
  • Werdnig-Hoffmann disease2 tests
  • Williams syndrome1 test
  • Wilson disease1 test
  • X-linked complicated corpus callosum dysgenesis1 test
  • X-linked Emery-Dreifuss muscular dystrophy1 test
  • X-linked hydrocephalus syndrome1 test
  • X-linked ichthyosis with steryl-sulfatase deficiency2 tests
  • X-linked intellectual disability-psychosis-macroorchidism syndrome2 tests

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Prenatal testing
  • Carrier testing
  • Genetic counseling
  • Identity Testing
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Result interpretation

List of certifications/licenses

Certifications

  • ISO15189, Number: D-ML-13403-01-00, Expiration date: 2018-08-11

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