| EX1818 SCA-11 (SPINOCEREBELLAR ATAXIA): TTBK2 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: |
SCA11 is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities, and pyramidal signs. ADCA III is an autosomal dominant cerebellar ataxia, a relatively benign, late-onset, slowly progressive neurologic disorder characterized by an uncomplicated cerebellar syndrome. SCA11 is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features, peripheral neuropathy, and dystonia are seen occasionally. This test targets exon 12 of the TTBK2 gene. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Neurologic Disorder-Ataxia |
| Components: |
*TTBK2 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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