| EX1815 SCA (SPINOCEREBELLAR ATAXIA): COMPREHENSIVE PROFILE |
| 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: |
Spinocerebellar ataxia (SCA) are autosomal dominant cerebellar ataxias of various types ranging from 1 to 40. SCA1, 2, 3, 6, 7 & 17 are caused by CAG triplet repeat expansions in different genes. SCA8 is due to an untranslated CTG repeat expansion; SCA12 is linked to an untranslated CAG repeat; SCA10 is caused by an untranslated pentanucleotide repeat. The clinical phenotypes of SCAs overlap, hence genotype has become the gold standard for diagnosis and classification. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Neurologic Disorder-Ataxia |
| Components: |
6 Genes: *ATXN1 *ATXN2 *ATXN3 *ATXN7 *CACNA1A *PPP2R2B |
| 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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