| EX1821 SCA-17 (SPINOCEREBELLAR ATAXIA): TBP 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: |
SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Anticipation in SCA17 is uncommon due to the interrupted configuration of the repeat alleles, which results in stabilization during intergenerational transmission. It can be caused by heterozygous expansion of a trinucleotide repeat encoding glutamine (CAG or CAA) in the TATA box-binding protein (TBP; 600075). Rarely, SCA17 has been found to be caused by homozygous or compound heterozygous TBP repeat expansions. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Neurologic Disorder-Ataxia |
| Components: |
*TBP 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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