| EX1817 SCA-1 (SPINOCEREBELLAR ATAXIA): ATXN1 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: |
SCA1 is autosomal dominant ataxia that manifests in early or middle adult life. It is characterized by progressive cerebellar ataxia of the trunk & limbs, gait impairment, slow voluntary movements, scanning speech, tremors & nystagmic eye movements. In SCA 1 there is a CAG trinucleotide repeat in chromosome 6p which gets affected & results in abnormal Ataxin-1 protein production. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Neurologic Disorder-Ataxia |
| Components: |
*ATXN1 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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