DHCR7 Sequencing

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.



About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.

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