About this test
Sizes the CGG repeat in FMR1 and classifies alleles as normal, intermediate, premutation or full mutation. Full mutations cause fragile X syndrome; premutations are linked to premature ovarian insufficiency and FXTAS.
- Clinical area
- Reproductive & neurogenetics
- Method
- Repeat analysis
- Sample
- EDTA whole blood · Extracted DNA
- Report languages
- EN · AR · RU
When to order
Developmental delay, intellectual disability or autism, premature ovarian insufficiency, or late-onset tremor and ataxia.
Results are reported to the ordering physician and should be interpreted in clinical context.
Request this test
Offer this test to your patients.
Contract pricing and turnaround times are provided on request for laboratories and clinics.
Reproductive & neurogenetics