| Test Information |
| Test Name |
Fragile X Syndrome |
| Lab (Location) |
Kingston General Hospital |
| Category |
Neurodevelopmental |
| Subcategory |
Fragile X Syndrome |
| Gene/Platform/Region List |
FMR1
|
| Test type |
Single Gene |
| Samples Accepted |
Blood, DNA, Cultured Cells, Amniocyte, CVS |
| Indications Diagnosis |
Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology |
PCR |
| Methodology Notes |
Promoter Region, CGG Expansion
|
| Diseases/Conditions |
Fragile X syndrome (FXS), fragile X mental retardation, marker X syndrome, and 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
|
