Alpha thalassemia

Breast cancer risk (BRCA1 and BRCA2 genes)

Cystic fibrosis

Epidermolysis bullosa simplex

Fragile X mental retardation^a

Huntington’s disease^a

Kennedy’s disease^a

Myotonic dystrophy^a

Sickle-cell anemia

Spinocerebellar ataxia type 1 (SCA1)^a

Spinocerebellar ataxia type 3 (SCA3/Machado-Joseph disease)^a