Prenatal Known Familial Mutation (includes MCC)

NY Approved

Test Overview

Clinical Utility

  • Mutation-specific testing for fetuses with a family history of a known mutation

Ordering Information

Important Information

  • Please contact GeneDx prior to sending in a sample for prenatal known variant testing.
  • A positive control is required for prenatal known variant testing
    • If the gene is associated with recessive inheritance, samples from both parents are required as positive control samples.

 

GeneDx does not currently offer targeted prenatal testing for variants found in Mitochondrial (mtDNA) genes.

 

To learn more about potential options, or for any questions, please email to [email protected]

Test Code: 902
CPT Codes*: Varies by Gene
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