ExomeDx™ Prenatal, targeted

NY Approved

Test Overview

Formerly known as XomeDxPrenatal-targeted

Clinical Utility

  • For an on-going pregnancy or a deceased fetus
  • Establishing a molecular diagnosis in a fetus with abnormal ultrasound findings.
  • Recurrence risk assessment

Test Details

Conditions

  • Fetus with ultrasound anomalies

Lab Method

  • Next-Gen Sequencing

Ordering Information

Important Information

ExomeDx™ Prenatal, targeted, or exome sequencing (ES), can identify the underlying molecular basis of a genetic disorder in a pregnancy with fetal anomalies. The test results will include medically relevant pathogenic or likely pathogenic variants in known disease-causing genes expected to be related to the reported fetal phenotype. Variants of uncertain significance may be reported if there is compelling evidence to suggest clinical significance. Pathogenic and likely pathogenic variants in genes known to cause significant childhood morbidity or mortality may be reported. Variants in novel, candidate genes will not be reported.

ExomeDx™ Prenatal, targeted test reports will include analysis of ACMG secondary findings in the fetus unless the family has opted out. The presence of any secondary finding(s) reported for the fetus will be provided for all relatives, unless the relative opts out of secondary findings. GeneDx does not conduct an independent evaluation of secondary findings in relatives as part of the proband’s test.

To ensure an expedited turnaround time, samples on the fetal specimen and both biological parents, if submitting, must be submitted at the same time, along with clinical information, in order to begin testing. Please list the fetus as the patient (proband). If family member samples are not submitted with the proband sample, the indicated family member samples MUST BE RECEIVED WITHIN 3 DAYS. If samples from the indicated family member are not received within the specified timeframe, testing will start with the samples received.

Family member samples submitted for trio or duo testing should be labeled with the name and date of birth of the person whose sample is contained in the tube, as well as the date of collection. Please list the fetus as the patient (proband).

To ensure that family members are linked properly and in a timely manner, be sure to provide the following information on the test order and Sample Info Card submitted with the sample:

  • Family member Name
  • Family member Date of Birth
  • Patient's Name
  • Family member's relationship to patient

Insurance billing not accepted

Test Code: 959
CPT Codes*: 81415x1, 81416x2
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