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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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.