GenomeDx™ Prenatal

NY Approved

Test Overview

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

GenomeDx™ Prenatal, or genome sequencing (GS), can be used to identify the underlying molecular basis of a genetic disorder in a pregnancy with fetal anomalies. The test results will include medically relevant pathogenic and likely pathogenic variants as well as variants of uncertain significance in genes expected to be related to the reported fetal phenotype. Pathogenic and likely pathogenic variants in genes known to cause childhood morbidity or mortality may be reported.

This test 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.

Due to the shorter TAT, samples from the proband and biological parents must be submitted at the same time, along with clinical information, in order to begin testing. 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. Modifications to the test code may impact billing and any prior benefit investigations.

Family member samples being submitted for 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 Information Card submitted with the sample:

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

If all of the required information and/or samples are not available at the time the proband’s specimen is submitted, please inform us by emailing [email protected]

 

Trio — Test Code: GD1008a · CPT Codes*: 81425x1, 81426x2
Duo — Test Code: GD1008e · CPT Codes*: 81425x1, 81426x1
Proband — Test Code: GD1008b · CPT Codes*: 81425x1
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