Sema4|GeneDx to Provide Whole Genome Sequencing and Interpretation Services for Landmark Genomic Newborn Screening Study.  Learn more >>

Prenatal Fragile X Syndrome

New York
Approved


Genes

FMR1

Conditions

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

Clinical Utility

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

Lab Method

  • PCR Fragment Analysis

Test Code

TF32

CPT Codes*

81243x1

ABN Required

No

Turnaround Time**

2 weeks

Preferred Specimen

20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC

Alternative Specimen

3 ug Extracted DNA

*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.