Fragile X (FMR1 gene)
| Test Information | |
|---|---|
| Test Name | Fragile X (FMR1 gene) |
| Lab (Location) | The Hospital for Sick Children |
| Category | Neurodevelopmental |
| Subcategory | Fragile X Syndrome |
| Gene/Platform/Region List | FMR1 |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | PCR |
| Methodology Notes | PCR-based Repeat Expansion Detection |
| Diseases/Conditions | FRAXA syndrome, Fragile X Tremor Ataxia syndrome, FXTAS, FMR1-related primary ovarian insufficiency |