MVZ Dr. Eberhard & Partner Dortmund

Personnel

Director: Annemarie Schwan, MD, Lab Director
Phone: +49 231 9572 7230
Email: [email protected]
Stefanie Schön, MD, Genetic Counselor
Phone: +49 231 9572 7232
Fax: +49 231 9572 87210
Email: [email protected]
Judith Kötting, MD, Genetic Counselor
Phone: +49 231 9572 7231
Email: [email protected]

Conditions and tests

436 conditions/phenotypes with 396 tests
Enter text to narrow down the list

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
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 and common atrioventricular junction1 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
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
CFTR-related disorder1 test
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
Classic homocystinuria1 test
CLOVES syndrome1 test
Colchicine resistance1 test
Coloboma of optic nerve1 test
Congenital bilateral absence of vas deferens1 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, classic type, 11 test
Ehlers-Danlos syndrome, type 41 test
Elliptocytosis 21 test
Elliptocytosis 31 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant5 tests
Encephalopathy due to GLUT1 deficiency4 tests
Epidermal nevus2 tests
Episodic ataxia type 11 test
Episodic ataxia type 22 tests
Fabry disease2 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 stromal 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 Bart hydrops syndrome1 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
Hereditary von Willebrand disease1 test
Huntington disease1 test
Hutchinson-Gilford syndrome1 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
Irido-corneo-trabecular dysgenesis1 test
Isolated optic nerve hypoplasia1 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
MELAS 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 skeletal myopathy2 tests
Myofibrillar myopathy 32 tests
Myosin storage myopathy2 tests
Myotonic dystrophy type 22 tests
Neonatal severe primary hyperparathyroidism1 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
Osteogenesis imperfecta1 test
Ovarian neoplasm1 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 dyskinesia7 tests
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
Prion disease1 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 syndrome2 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
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

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.