| EX1828 SCA-8 (SPINOCEREBELLAR ATAXIA): ATXN8OS & ATXN8 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: |
SCA8 is an autosomal dominant slowly progressive ataxia with dysarthria. It usually manifests at 40 years of age with a range from 20 to 65 years. Other features include nystagmus, leg spasticity & reduced vibratory sensation. SCA8 is caused by bidirectional transcription at the SCA8 locus on chromosome 13q21 involving both an expanded CTG trinucleotide repeat in the ATXN8OS gene and the complementary CAG repeat in the ATXN8 gene (13q21). |
| Doctor Specialty: |
Neurologist |
| Disease: |
Neurologic Disorder-Ataxia |
| Components: |
*ATXN8OS CTG Repeat *ATXN8 CAG Repeat |
| 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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