FREIDREICHS ATAXIA MUTATION ANALYSIS
Friedreich's ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it can also lead to scoliosis, heart disease and diabetes, but does not affect cognitive function. This test detects expansion of an intronic GAA triplet repeat in the FXN gene which leads to reduced expression of the mitochondrial protein frataxin.
Parameter(s) covered : 1
Report Frequency: Sample Mon / Fri by 11 am; Report 10 Working days
Special Instruction: Physician prescription is mandatory.
Price : ₹ 9000.00
Parameters
- FREIDREICHS ATAXIA MUTATION ANALYSIS BY PCR FRAGME