Test Details

SCA-2 (SPINOCEREBELLAR ATAXIA): ATXN2 GENE MUTATION

Test Price: ₹ 3200

SCA2 is an autosomal dominant ataxia which is mainly seen in patients from India & Cuba. It is a unique form of cerebellar degenerative disease which can arise in a wide age range of 2 to 65 years. The symptoms are similar to SCA1 but in addition , the patient also has optic disc pallor, retinal degeneration & Parkinsonian rigidity. In SCA 2 there is a CAG trinucleotide repeat in chromosome 12q which results in abnormal Ataxin-2 protein production.



Test Code:
DVCL0406
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

ATXN2 Gene