Archives

UPD Uniparental Disomy – 2 Chromosomes

Disomia Uniparentale UPD – 2 Cromosomi

Familial Dilated Cardiomyopathy

Cardiomiopatia Dilatativa Familiare

Prader Willi/Angelman Syndromes – Panel

Screening genetico per Sindrome di Prader Willi/Angelman – Pannello

Amyotrophic Lateral Sclerosis (ALS) and frontotemporal dementia – Panel

Sclerosi Laterale Amiotrofica (SLA) e demenza frontotemporale – Pannello

MAPT (proteina tau), GRN/PGRN (progranulina), TARDBP (DNA binding protein), VCP (valosina), CHMP2B (proteina multivascolare corpo 2B)

Microsatellite marker phenotype analysis (LOH/RER)

Test di instabilità microsatelliti (LOH/RER)