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
- Blood, DNA, Cultured Cells, Amniocyte, CVS
- Indications
- Diagnosis, Carrier Cascade Testing, Prenatal
- Test Methodology
- 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: November 26, 2025