Test Details

SCA-7 (SPINOCEREBELLAR ATAXIA): ATXN7 GENE MUTATION

Test Price: ₹ 3200

SCA7 is an autosomal dominant ataxia which is distinguished from other SCAs by marked retinal pigmentary degeneration leading to visual loss and macular degeneration in additon to ataxia. In SCA 7 there is a CAG trinucleotide repeat in chromosome 3p14-p21.1 which results in abnormal Ataxin-7 protein. This expanded repeat size is highly variable and corresponds with variable severity of symptoms.



Test Code:
DVCL0408
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

ATXN7 Gene