Sordità congenita (CX26)
Ipocondroplasia (FGFR3)
Acondroplasia (FGFR3)
Fibrosi cistica (CFTR)
Distrofia miotonica (CTG repeat DMPK)
B-talassemia (beta-globina)
X-fragile (FRAXA/FRAXE)
Aneuploidie molecolari (13, 18, 21 XY)
Alzheimer (PSEN 1 - PSEN 2)
Alzheimer (APO E)
Atassia spinocerebellare (SCA type 1, 2, 3, 6, 7)
Ataxia telangectasia
Friedrich ataxia
Huntington
Spinal and bulbar muscolar atrophy (SBMA)
Dystonia primaria precoce (DYT1)
Distrofia Muscolare Duchenne/Becker
Epidermolisi bullosa
Emofilia A e B
Emocromatosi (HFE)
Glycogen Storage Disease (GAA)
alfa-1-Antitripsina
SRY (Sex determining Region - Y
Tipizzazione HLA (loci A,B,C,DR,DQ)
