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S0012
SCA 2 (Spinocerebellar Ataxia Type-2)
Test Details: SCA2 is an autosomal dominant ataxia which is mainly seen in patients from India & Cuba. It is a unique form of cerebellar degenerative disease which can arise in a wide age range of 2 to 65 years. The symptoms are similar to SCA1 but in addition, the patient also has optic disc pallor, retinal degeneration & Parkinsonian rigidity. In SCA 2 there is an expansion in CAG trinucleotide repeat in chromosome 12q which results in abnormal Ataxin-2 protein production.
Category
Molecular Genetics
Pre-test Information
Clinical and family history is mandatory.
Report Delivery
3 working days
Gender
All
Organ
Multi-Organ
SCA 2 (Spinocerebellar Ataxia Type-2)
2365
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