Genetic Test Details
Fragile X Syndrome
Test Information
- Title
- Fragile X Syndrome
- Category
- Neurodevelopmental
- Sub Category
- Fragile X Syndrome
- Gene/Platform/Region List
- FMR1
- Test type
- Single Gene
- Samples Accepted
- DNA , Blood , Cultured Cells , CVS , Amniocyte
- Indications
- Carrier Cascade Testing , Diagnosis , Prenatal
- Test Methodology
- PCR
- Methodology Notes
- Promoter Region, CGG Expansion
- Disease/Condition
- 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
Last Updated: June 23, 2025