20 May 2022

Test Background

The Delta-7-Dehydrocholesterol Reductase (DHCR7) gene, which catalyzes the last step in the biosynthesis of cholesterol, is responsible for Smith-Lemli-Opitz syndrome (SLOS, also known as the RSH syndrome). Exons 4, 5, 6, 7, 8 and 9 of the DHCR7 gene contain all pathogenic mutations identified to date. This laboratory performs Sanger sequencing of the DHCR7 gene.

Gene(s)

DHCR7

Vital Information

Test Code:
S0752

Turnaround Time:
2-3 weeks

CPT Code:
81405×1

Billing

Important Billing Information

Forms and Documents

Requisition Form