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FMR1 CGG Repeat Analysis

New York
Approved


Genes

FMR1

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

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.

**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.