Test Details

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:
DVCL0410
Report Delivery:
Sample Tue by 11 am; Report Sat
Parameters Included:
1
Category:
Neurologic Disorder
Pre-Test Information:
Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Method:
PCR, Fragment Analysis
Specimen:
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 hrs
Stability Refrigerated:
1 week
Stability Frozen:

Profile/Component - 1

CACNA1A Gene