Test Details

SCA (SPINOCEREBELLAR ATAXIA): COMPREHENSIVE PROFILE

Test Price: ₹ 14500

Spinocerebellar ataxia (SCA) are autosomal dominant cerebellar ataxias of various types ranging from 1 to 40. SCA1, 2, 3, 6, 7 & 17 are caused by CAG triplet repeat expansions in different genes. SCA8 is due to an untranslated CTG repeat expansion; SCA12 is linked to an untranslated CAG repeat; SCA10 is caused by an untranslated pentanucleotide repeat. The clinical phenotypes of SCAs overlap, hence genotype has become the gold standard for diagnosis and classification.



Test Code:
DVCL0411
Report Delivery:
Sample Tue by 11 am; Report Sat
Parameters Included:
7
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 - 7

6 Genes:
ATXN1
ATXN2
ATXN3
ATXN7
CACNA1A
PPP2R2B