Prenatal Fragile X Syndrome

NY Approved

Test Overview

Clinical Utility

  • Testing for fetuses at increased risk for Fragile X syndrome based on family history

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

Test Code: TF32
CPT Codes*: 81243x1; +81244x1 if more than 150 repeats
ABN Required: No
Turnaround Time**: 2 weeks
Preferred Specimen: 30 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 30 mg CVS | 5 µg DNA Concentration | POC or other fetal tissue
Minimum Specimen:

20 mL Amniotic Fluid | 20 mg CVS  

Samples below the minimum amounts may be accepted, please contact [email protected] in advance to review. 

*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. Note that if the submitted specimen requires cell culturing, this will delay the start of testing.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs