| EX1823 SCA-23 (SPINOCEREBELLAR ATAXIA): PDYN 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: |
SCA23 is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). ADCA I is characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal, and extrapyramidal signs, peripheral neuropathy, and dementia among others. SCA-23 is an adult-onset neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, with various additional features, including peripheral neuropathy and dysarthria. The majority are caused by heterozygous mutations in exon 4 of the PDYN gene. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Neurologic Disorder-Ataxia |
| Components: |
*PDYN 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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