Carrier Screening Extended (Test del portatore 3^ livello)

ESAME PER LA COPPIA

Il test comprende l’analisi di oltre 900 geni associati a più di 1300 malattie, tra cui: Duchenne And Becker Muscular Dystrophy, Achondrogenesis, Alport, Arthrogryposis, Mental Retardation And Seizures (Amrs), Bardet-Biedl Syndrome 1, Canavan Disease, Cornelia De Lange Syndrome 2, Cystic Fibrosis, Ellis-Van Creveld Syndrome, Familial Dysautonomia, Fanconi Anemia, Group C, Fragile X Syndrome, Gaucher, Hemophilia, Hereditary Hemorrhagic Telangiectasia, Hirschsprung Disease, Hypophosphatasia, Infantile, Joubert Syndrome 8/2/3/5/6/7/9, L1 Syndrome, Leigh Syndrome, Lissencephaly With Cerebellar Hypoplasia, Meckel, Mucolipidosis,Type Iv, Nemaline Myopathy, Phenylketonuria, Rene Policistico Autosomico Recessivo, Seckel Syndrome, Atrofia Muscolare Spinale (Sma), Smith-Lemli-Opitz, Sordità Congenita Aut. Recessiva, Sotos Tay-Sachs Disease, Thalassaemia Beta, Tyrosinemia, Wilson, X-Linked Adrenal Hypoplasia Congenita, Zellweger, Longq-T Syndrome
(cariotipo su sangue periferico)