Fragile X Syndrome via FMR1 CGG Repeat Expansion
Use
This test is intended for individuals with clinical or suspected diagnosis of Fragile X syndrome, females with primary ovarian insufficiency before age 40, males and females with features consistent with Fragile X-associated tremor/ataxia syndrome, and those with a family history of Fragile X syndrome. Fragile X syndrome is a genetic disorder caused by the expansion of the CGG repeat in the FMR1 gene, leading to developmental issues and cognitive impairment. Early and accurate diagnosis can guide management and inform family planning decisions.
Special Instructions
STAT testing is available with a surcharge, and institutional pricing requires signing in. A completed online order or paper test requisition form (TRF) along with a labeled specimen is required to initiate testing. Ensure the inclusion of a completed clinical features checklist or clinical notes when ordering, as well as a detailed family pedigree if available, to improve variant interpretation.
Limitations
The test is developed and validated under CAP and CLIA regulations by PreventionGenetics LLC, but it is not cleared or approved by the FDA. Performance characteristics such as sensitivity and specificity are part of internal validations, but may not meet threshold levels for clinical decision-making without further supportive clinical data. The test is also not NY state approved.
Methodology
PCR-based
Biomarkers
Result Turnaround Time
6-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided