SCA-6 (SPINOCEREBELLAR ATAXIA): CACNA1A GENE MUTATION
Test Price: ₹ 3200
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.
Test Code:
DVCL0410Report Delivery:
Parameters Included:
1Category:
Neurologic DisorderPre-Test Information:
Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.Method:
PCR, Fragment AnalysisSpecimen:
4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.Stability Room:
6 hrsStability Refrigerated:
1 weekStability Frozen:
Profile/Component - 1
CACNA1A Gene