| EX1825 SCA-5 (SPINOCEREBELLAR ATAXIA): SPTBN2 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, Sequencing |
| Comment: |
Samples received on holidays will be reported in the next schedule/next working day. |
| Report: |
Contact us to know the TAT. |
| Usage: |
Cerebellar ataxia has variable involvement in the brainstem and spinal cord, and the clinical features of the disorder are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord. Spinocerebellar ataxia-5 (SCA5) is caused by heterozygous mutation in the SPTBN2 gene on chromosome 11q13. This test is specific for the SPTBN2 gene hotspot (exon 12) locus. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Neurologic Disorder-Ataxia |
| Components: |
*SPTBN2 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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