FMR1 CGG Repeat Analysis
New York
Approved
Genes
Conditions
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
- Fragile X Syndrome
- Premature Ovarian Failure (FMR1-Associated)
Clinical Utility
- To differentiate fragile X syndrome from other causes of intellectual disability and autism spectrum disorders
- Preconception/prenatal carrier testing for women with a personal or family history of fragile X syndrome, unexplained intellectual disability, autism spectrum disorders, or POI
- Carrier testing for at-risk relatives
Lab Method
- PCR Fragment Analysis
Test Code
522
CPT Codes*
81243x1
ABN Required
No
Turnaround Time**
2 weeks
Preferred Specimen
Alternative Specimen
*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.
Test Documents
Billing
For Providers
Targeted Variant Testing