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DHCR7 Gene Sequencing & Del/Dup


Genes

DHCR7

Conditions

  • Smith-Lemli-Opitz Syndrome

Clinical Utility

  • Confirmation of a suspected clinical diagnosis
  • Carrier testing in siblings or other relatives

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

2502

CPT Codes*

81405x1

ABN Required

No

Turnaround Time**

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.