| EX1824 SCA-3 (SPINOCEREBELLAR ATAXIA): ATXN3 GENE MUTATION |
| Specimen: |
4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 6 hrs |
1 week |
NA |
|
| Method: |
PCR, Fragment analysis |
| Comment: |
Samples received on holidays will be reported in the next schedule/next working day. |
| Report: |
Contact us to know the TAT. |
| Usage: |
SCA3 (Machado-Joseph disease) is autosomal dominant ataxia and is one of the most common among the majority of populations. It is classified into 3 types namely- Type I (Amyotrophic lateral sclerosis-Parkinsonism-Dystonia type); Type II (Ataxic type) & Type III (Ataxic-Amyotrophic type). The 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. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Neurologic Disorder-Ataxia |
| Components: |
*ATXN3 Gene |
| Courier Charges: |
|
| 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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