Fragile X E (FMR2 gene)
| Test Information | |
|---|---|
| Test Name | Fragile X E (FMR2 gene) |
| Lab (Location) | The Hospital for Sick Children |
| Category | Neurodevelopmental |
| Subcategory | Fragile X Syndrome |
| Gene/Platform/Region List | AFF2 (FMR2) |
| 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 | Fragile X E (FRAXE), FRAXE syndrome; Fragile site, folic acid type; X-linked intellectual disability associated with fragile site FRAXE |