PGD – Suche nach E<strong>in</strong>zelgendefekten Es gibt zur Zeit ca. 3000 identifizierte monogenische Krankheiten. Der Schweregrad <strong>der</strong> Erkrankung ist sehr unterschiedlich. Beispiele: Zystische Fibrose, Muskeldystrophie Duchenne, Fanconi- Anämie, Corea Hunt<strong>in</strong>gton Frauenkl<strong>in</strong>ik Universität-Fortpflanzungszentrum Franken (UFF) Zertifizierung nach DIN:ISO 9001:2000 62
PGD – Suche nach E<strong>in</strong>zelgendefekten Liste UK: Versuch <strong>der</strong> Regulierung <strong>in</strong> UK Adrenoleukodystrophy, Agammaglobul<strong>in</strong>aemia, Alpers Syndrome, An<strong>der</strong>son Fabry Disease, Androgen Insensitivity Syndrome, Autosomal recessive non-syndromic sensor<strong>in</strong>eural deafness, Beckers Muscular Dystrophy, Beta Hydroxyisobuyryl CoA Hydrolase Deficiency (Methacryic Aciduria), Beta Thalassaemia, Breast cancer, BRCA 1, Bruton Agammaglobul<strong>in</strong>emia Tyros<strong>in</strong>e K<strong>in</strong>ase (BTK), Cardiac Valvular Dysplasia, Charcot Marie Tooth Disease, Choroi<strong>der</strong>aemia, Chronic Granulomatous Disease Coff<strong>in</strong>-Lowry Syndrome, Congenital Adrenal Zystische Fibrose Muskeldystrophie Duchenne Fanconi-Anämie Hyperplasia,· Congenital Fibrosis of the Extraocular Muscles, Crouzon Syndrome, Cystic Fibrosis, Duchenne Muscular Dystrophy, Early Onset Alzheimers Disease, Ecto<strong>der</strong>mal Dysplasia, Facioscapulohumeral Dystrophy, Corea Hunt<strong>in</strong>gton Familial Adenomatous polyposis coli (FAP), Fanconi's Anaemia A, Fanconi's Anaemia C, Fragile X Syndrome, Gonadal mosaicism, Haemophilia A, Haemophilia B, Hallipeau-Siemens recessive dystrophic epi<strong>der</strong>molysis bullosa, Homozygous familial Hypercholesterolaemia, Hunters Syndrome, Hunt<strong>in</strong>gton’s Disease (Hunt<strong>in</strong>gton's Chorea), Hämophilie Hydroxyisobuyryl A CoA Hydrolase Deficiency, Hypogammaglobul<strong>in</strong>aemia, Incont<strong>in</strong>entia Pigmenti, Infantile Battens Disease, Juvenile Ret<strong>in</strong>oschisis, Lenz syndrome, Lesch Nyan Syndrome, Li-Fraumeni Syndrome, Lymphoproliferative Syndrome Marfan Syndrome, Marfan Syndrome, Metachromatic Leukodystrophy, Multiple Endocr<strong>in</strong>e Brustkrebsgen Neoplasia Type 1, Myotonic (BRCA1) Dystrophy, Myotublar myopathy, Myotubular atrophy, Neurofibromatosis type I, Neurofibromatosis type II, Niemann Pick Disease Type C, Ornith<strong>in</strong>e carbamoyl transferase (OTC) Deficiency, Ostheopathia Striata with Cranial, Sclerosis (OSCS), Otopalatodigital syndrome type 2, · Partial Lipodystrophy, Familial, Type 2, Pelizaeus Merzbacher Disease, Pra<strong>der</strong> Willi Syndrome, Severe aplastic anaemia, Severe Comb<strong>in</strong>ed Immune Deficiency, Sickle Cell Anaemia, Sp<strong>in</strong>al Muscular Atrophy, Tay sachs disease, Treacher Coll<strong>in</strong>s Syndrome, Von Hippel L<strong>in</strong>dau (VHL) Syndrome, Wiscott-Aldrich Syndrome, X-l<strong>in</strong>ked Hereditary Motor and Sensory Neuropathies, X-l<strong>in</strong>ked hydrocephalus, X-l<strong>in</strong>ked Immuno-deficiencies, X-l<strong>in</strong>ked Mental Retardation, X- l<strong>in</strong>ked spastic paraplegia, Chromosomal rearrangements, etc. Frauenkl<strong>in</strong>ik Universität-Fortpflanzungszentrum Franken (UFF) Zertifizierung nach DIN:ISO 9001:2000 63