Fragile X Syndrome (FMR1 gene)
| Test Information | |
|---|---|
| Test Name | Fragile X Syndrome (FMR1 gene) |
| Lab (Location) | North York General Hospital |
| Category | Neurodevelopmental |
| Subcategory | Fragile X Syndrome |
| Gene/Platform/Region List | FMR1 (CGG repeats) |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA, Cultured Cells, Amniocyte, CVS |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | Methylation, PCR |
| Methodology Notes | TP-PCR and fragment analysis |
| Diseases/Conditions | Fragile X syndrome |