Fragile X (FMR1 gene)
| Test Information | |
|---|---|
| Test Name | Fragile X (FMR1 gene) |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Neurodevelopmental |
| Subcategory | Fragile X Syndrome |
| Gene/Platform/Region List | FMR1 |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA, Cultured Cells, Amniocyte |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | PCR +/- Southern Blot |
| Methodology Notes | CGG Repeat |
| Diseases/Conditions | Fragile X syndrome (FXS), fragile X mental retardation, marker X syndrome, Martin-Bell syndrome, Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary Ovarian Insufficiency (FXPOI), FMR1-related premature ovarian failure, FMR1 primary ovarian insufficiency |