| EX1826 SCA-6 (SPINOCEREBELLAR ATAXIA): CACNA1A 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: |
SCA6 is autosomal dominant ataxia with vibratory & proprioceptive sensory loss. It manifests later in life and is associated with cerebellar degeneration. In SCA 6 there is a CAG trinucleotide repeat in chromosome 19p which results in abnormal CACNA1A protein. Missense mutations in the same gene cause Familial hemiplegic migraine while nonsense mutations result in Hereditary paroxysmal cerebellar ataxia or Episodic ataxia. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Neurologic Disorder-Ataxia |
| Components: |
*CACNA1A 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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