In order to ensure 2023 billing, testing must be activated before the end of the year, or within 30 days of proband sample collection (if sample was collected in 2023). For Exome, Genome, or Xpanded testing, if you do not expect parental samples to be received in time for testing to be activated with 2023 billing, please contact us at [email protected] to determine how to proceed.

Suggested Custom Slice  - Bardet-Biedl Syndrome

New York

Clinical Utility

  • Analysis of custom gene list (up to 150 genes)

Lab Method

  • Next-Gen Sequencing

Important Information

Suggested gene lists, tailored to a specific test indication, are reviewed and updated periodically by GeneDx. Certain genes associated with the phenotype may not be included. Ordering providers are encouraged to review the gene list and revise it by adding or subtracting desired genes. Ultimately, the provider is responsible for selecting the appropriate genes based on the patient's phenotype.

Test Code

706 + CS-BBS

CPT Codes*

CPT codes depend on final gene list and are available upon request.

ABN Required


Turnaround Time**

8 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*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.