| EX0729 FREIDREICH’S ATAXIA MUTATION ANALYSIS |
| Specimen: |
4 mL (2 mL min.) whole blood in 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| NA |
1 week |
NA |
|
| Method: |
PCR Fragment analysis |
| Comment: |
|
| Report: |
Contact us to know the TAT. |
| Usage: |
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. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Genetic Disorders |
| Components: |
|
| Courier Charges: |
0.00 |
| Home Collection: |
Available (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Genomics clinical information requisition form is mandatory. |
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