Fragile X-associated tremor/ataxia syndrome
| Test Information | |
|---|---|
| Test Name | Fragile X-associated tremor/ataxia syndrome |
| Lab (Location) | North York General Hospital |
| Category | Neurodevelopmental, Neurogenetics |
| Subcategory | Fragile X Syndrome |
| Gene/Platform/Region List | FMR1 (CGG repeats) |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Electrophoresis, PCR |
| Methodology Notes | TP-PCR and fragment analysis |
| Diseases/Conditions | Fragile X-associated tremor/ataxia syndrome (FXTAS) |