Smith-Lemli-Opitz Syndrome

Test Information

Title
Smith-Lemli-Opitz Syndrome
Lab
Category
Metabolic
Test Name (CMS Title)
Smith-Lemli-Opitz Syndrome
Gene/Platform/Region List
DHCR7
Test type
Single Gene
Samples Accepted
Blood, DNA
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Direct Exon Sequencing
Disease/Condition
Smith-Lemli-Opitz Syndrome (SLOS), RSH syndrome, Smith-Lemli-Opitz syndrome type II, 7-dehydrocholesterol reductase deficiency, DHCR7 abnormality

Last Updated: November 14, 2025

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