SCA-3 (SPINOCEREBELLAR ATAXIA): ATXN3 GENE MUTATION

Test Price: ₹ 3200

SCA3 (Machado-Joseph disease) is an autosomal dominant ataxia being one of the most common among majority of populations. It is classified into 3 types namely- Type I (Amotrophic lateral sclerosis-Parkinsonism-Dystonia type); Type II (Ataxic type) & Type III (Ataxic-Amyotrophic type). Mean age of onset of SCA3 is 25 years and patients have severe debilitation by 15 years from the age of onset in types I & II. In SCA 3 there is a CAG trinucleotide repeat in chromosome 14q which results in abnormal Ataxin-3 protein production.

Test Code:

DVCL0407

Report Delivery:

Sample Tue by 11 am; Report Sat

Parameters Included:

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

ATXN3 Gene

Test Details