Category: Neurology

APOE – Genotyping E2, E3, E4

Muscular Distrophy of Duchenne-Becker – Most Deletions

Huntington Disease (CAG repeats)

Fragile X Syndrome (FRAXA)

Primary Distonia – Most mutations

Spinal Muscular Atrophia, SMA (Types 1, 2, 3, 4)

Friedreich Atassia, FRDA

Familial Mediterranean Fever – Main Mutations

Mucopolysaccharidosis Type VI, Maroteaux-Lamy Syndrome

Spinocerebellar Ataxia Type 6