S0014
SCA 6 (Spinocerebellar Ataxia Type-6)
Test Details: SCA6 is an autosomal dominant ataxia with vibratory & proprioceptive sensory loss. It manifests later in life and is associated with cerebellar degeneration. In SCA 6 there is a CAG trinucleotide repeat in chromosome 19p which results in abnormal CACNA1A protein. Missense mutations in the same gene cause Familial hemiplegic migraine while nonsense mutations result in Hereditary paroxysmal cerebellar ataxia or Episodic ataxia.
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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 6 (Spinocerebellar Ataxia Type-6)
2365
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