FMR1 CGG Repeat Analysis

NY Approved

Test Overview

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

Test Details

Genes

FMR1

Conditions

  • Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
  • Fragile X Syndrome
  • Premature Ovarian Failure (FMR1-Associated)

Lab Method

  • PCR Fragment Analysis

Ordering Information

Important Information

The American College of Medical Genetics and Genomics (ACMG) strongly supports exome or genome sequencing as a first-tier test for patients with developmental delay, intellectual disabilities and/or congenital anomalies.

References:

  1. Genetics in Medicine (2021) 23:2029–2037; https://doi.org/10.1038/s41436-021-01242-6
Test Code: 522
CPT Codes*: 81243x1; +81244x1 if more than 150 repeats
ABN Required: No
Turnaround Time**: 2 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs

*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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

For Providers

Targeted Variant Testing

FAQs