DHCR7 Sequencing

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.

Forms & Docs

Ordering

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Test Code
S0752

Turn Around Time
2-3 weeks

Billing

CPT Code
81405×1

Ordering Guidance

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
DHCR7

Methods
Sanger