| EX1827 SCA-7 (SPINOCEREBELLAR ATAXIA): ATXN7 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: |
SCA7 is autosomal dominant ataxia that is distinguished from other SCAs by marked retinal pigmentary degeneration leading to visual loss and macular degeneration in addition to ataxia. In SCA 7 there is a CAG trinucleotide repeat in chromosome 3p14-p21.1 which results in abnormal Ataxin-7 protein. This expanded repeat size is highly variable and corresponds with variable severity of symptoms. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Neurologic Disorder-Ataxia |
| Components: |
*ATXN7 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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