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  • Abdominal obesity, insulin resistance, metabolic syndrome
  • Abetalipoproteinemia (ABL)
  • Achondrogenesis Type II Langer-Saldino
  • Achondroplasia (ACH)
  • Adrenogenital syndrome (AGS, congenital adrenal hyperplasia)
  • Age-related macular degeneration (ARMD4, ARMD7)
  • Alopecia (atrichia with papular lesions, APL)
  • Alpha thalassemia
  • Alpha-1 Antitrypsin Deficiency
  • Alzheimer’s Disease, early-onset, (AD1)
  • Alzheimer’s Disease: ApoE Genotype (Late onset) and Presenilin-1 Mutation (Early onset)
  • Angelman syndrome (AS)
  • Apert syndrome
  • Apolipoprotein A-I deficiency
  • Apolipoprotein B deficiency (FLDB)
  • Apolipoprotein C-II deficiency (type I hyperlipidemia)
  • Arrhythmogenic right ventricular dysplasia (ARVD)
  • Ataxia, Friedreich
  • Ataxias, spinocerebellar Type 1,2,3 (MJD), 6 and 7
  • Autoimmune polyendocrinopathy candidiasis ectormal dystrophy syndrome type I
  • Autosomal dominant polycystic kidney disease (ADPKD)
  • Autosomal dominant spinocerebellar ataxia (SCA)
  • Azoospermia (Male Infertility Syndrome)
  • Beta thalassemia
  • Brugada syndrome
  • Bruton agammaglobulinemia (XLA)
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT)
  • CHARGE syndrome
  • Chylomicronemia syndrome (type I hyperlipidemia)
  • Coffin Lowry syndrome (CLS)
  • Colon cancer familial nonpolyposis (HNPCC)
  • Colon cancer familial nonpolyposis (HNPCC) (1,14)
  • Colon cancer, familial adenomatous polyposis (FAP)
  • Congenital contractural arachnodactyly (CCA)
  • Craniosynostosis
  • Creutzfeldt-Jakob disease, familial form (CJD)
  • Creutzfeldt-Jakob disease, sporadic form/new variant
  • Crigler-Najjar Syndrome
  • Crohn Disease (Inflammatory Bowel Disease, IBD1)
  • Cystic Fibrosis (mucoviscidosis)
  • Dentatorubral-pallidoluysian atrophy (DRPLA)
  • Diabetes mellitus type 2, non–insulin-dependent (NIDDM)
  • Dravet’s syndrome (severe myoclonic epilepsy of infancy (SMEI), intractable epilepsy of childhood)
  • Dysbetalipoproteinemia (type III hyperlipidemia)
  • Ehlers-Danlos syndrome (EDS) type III
  • Ehlers-Danlos syndrome type I and II
  • Ehlers-Danlos syndrome type IV
  • Ehlers-Danlos syndrome type VIIA and VIIB
  • Familial form of breast cancer
  • Familial hypertrophic cardiomyopathy (HCM)
  • Familial Mediterranean fever (FMF)
  • Familial polyposis coli (familial adenomatous polyposis/FAP, APC)
  • Familial thoracic aortic aneurysm/dissection type 3 (FAA3)
  • Fish eye disease (FED)
  • Fragile X (Martin-Bell) syndrome (FRAXA)
  • Gilbert's syndrome (Meulengracht disease)
  • HDL deficiency syndrome (hypoalphalipoproteinemia)
  • Hepatic lipase deficiency, familial form
  • Hereditary amyloidosis (ATTR)
  • Hereditary hemochromatosis (HH)
  • Hereditary protein S deficiency
  • HIV-1 host resistance
  • Huntington's disease
  • Hypercholesterinemia, familial form (FH)
  • Hyperoxaluria primary type 1 (PH1)
  • Hypobetalipoproteinemia, familial form (FHBL)
  • Hypochondrogenesis
  • Hypochondroplasia (HCH)
  • Juvenile polyposis syndrome (JPS)
  • Kniest syndrome
  • Lecithin cholesterol acyltransferase (LCAT)
  • LEOPARD syndrome
  • Li-Fraumeni syndrome (LFS)
  • Lipoproteinlipase (LPL) deficiency, familial
  • Loeys-Dietz syndrome (LDS)
  • Long QT syndrome (LQTS), familial
  • Malignant melanoma, familial form type 2 (CMM2)
  • Marfan syndrome (MFS)
  • Marfan syndrome type II (MFS II)
  • Marshall syndrome
  • Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
  • Metaphyseal chondrodysplasia, Schmid type (MCDS)
  • Methylenetetrahydrofolate reductase (MTHFR) deficiency
  • Muenke syndrome
  • Multiple endocrine neoplasia type 1 (MEN1)
  • Multiple endocrine neoplasia type 2A and B (MEN2)
  • Muscular dystrophy Duchenne / Becker
  • Myotonic dystrophy
  • Nephrogenic diabetes insipidus (NDI)
  • Neurofibromatosis type 1 (NF1)
  • Neurofibromatosis type 2 (NF2)
  • Noonan syndrome (NS)
  • Osteogenesis imperfecta (OI)
  • Otospondylomegaepiphyseal dysplasia (OSMED)
  • Pancreatitis Chronic – Congenital Disposition
  • Pancreatitis, chronic sporadic form
  • Pancreatitis, familial form
  • Peutz-Jeghers syndrome (PJS)
  • Pfeiffer syndrome
  • Postmenopausal osteoporosis
  • Prader-Willi syndrome (PWS)
  • Recessive non-syndromic hearing loss
  • Rett syndrome (RTT)
  • Saethre-Chotzen syndrome (SCS)
  • Sickle cell anemia (SA)
  • Silver-Russell syndrome (SRS)
  • Sotos syndrome
  • Spinal muscular atrophy type I – III (SMA1,2,3)
  • Spinobulbar muscular atrophy (SBMA, Kennedy disease)
  • Spondyloepimetaphyseal dysplasia (SED)
  • Stickler syndrome
  • Tangier disease (TGD)
  • Thanatophoric dysplasia (TD)
  • Thrombophilia
  • Tuberous sclerosis complex type 1 and 2 (TSC)
  • Uniparental disomy (UPD)
  • Von Willebrand disease (VWD)
  • Wilson disease (WND)
  • Wiskott-Aldrich syndrome (WAS)
  • X-linked lymphoproliferative syndrome (XLP1)

 
Center for Human Genetics and Laboratory Medicine

Dr. Klein and Dr. Rost
Lochhamer Str. 29
82152 Martinsried
Germany
Ph.: +49(89) 89 55 78-0

info@medical-genetics.de
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