Test Code: ATXN17

Genes: TBP (1 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Polymerase Chain Reaction followed by Capillary Electrophoresis.

Turnaround Time: 7 - 10 days

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 800

Description:
A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterised by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.