S0013
SCA 3 (Spinocerebellar Ataxia Type-3)
Test Details: SCA3 (Machado-Joseph disease) is an autosomal dominant ataxia being one of the most common among majority of populations. It is classified into 3 types namely- Type I (Amyotrophic lateral sclerosis-Parkinsonism-Dystonia type); Type II (Ataxic type) & Type III (Ataxic-Amyotrophic type). Mean age of onset of SCA3 is 25 years and patients have severe debilitation by 15 years from the age of onset in types I & II. In SCA 3 there is an expansion in CAG trinucleotide repeat in chromosome 14q which results in abnormal Ataxin-3 protein production.
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Category
Molecular Genetics
Pre-test Information
Clinical and family history is mandatory.
Report Delivery
3 working days
Gender
All
Organ
Multi-Organ
SCA 3 (Spinocerebellar Ataxia Type-3)
2365
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