| EX1822 SCA-2 (SPINOCEREBELLAR ATAXIA): ATXN2 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: |
SCA2 is autosomal dominant ataxia which is mainly seen in patients from India & Cuba. It is a unique form of the cerebellar degenerative disease which can arise in a wide age range of 2 to 65 years. The symptoms are similar to SCA1 but in addition, the patient also has optic disc pallor, retinal degeneration & Parkinsonian rigidity. In SCA 2 there is a CAG trinucleotide repeat in chromosome 12q which results in abnormal Ataxin-2 protein production. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Neurologic Disorder-Ataxia |
| Components: |
*ATXN2 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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