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.

Holoprosencephaly Panel & Del/Dup

New York
Approved

Genes

SHH, SIX3, TGIF, ZIC2

Conditions

  • Holoprosencephaly

Clinical Utility

  • Confirmation of clinical diagnosis
  • Identification of the specific gene defect(s) to allow:
    • Identification of non-expressing mutation carriers in families with an affected member
    • Prenatal diagnosis for the specific mutation in the family

Lab Method

  • MLPA
  • Next-Gen Sequencing

Test Code

2371

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

3-4 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.

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