Test Details

SCA-1 (SPINOCEREBELLAR ATAXIA): ATXN1 GENE MUTATION

Test Price: ₹ 3200

SCA1 is an autosomal dominant ataxia which manifests in early or middle adult life. It is characterized by progressive cerebellar ataxia of trunk & limbs, gait impairment, slow voluntary movements, scanning speech, tremors & nystagmoid eye movements. In SCA 1 there is a CAG trinucleotide repeat in chromosome 6p which gets affected & results in abnormal Ataxin-1 protein production.



Test Code:
DVCL0405
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

ATXN1 Gene