Genetic Test Details

Smith-Lemli-Opitz Syndrome

Test Information

Title
Smith-Lemli-Opitz Syndrome
Lab
Category
Metabolic
Sub Category
Smith-Lemli-Opitz Syndrome
Gene/Platform/Region List
DHCR7
Test type
Single Gene
Samples Accepted
Blood , DNA , Cultured Cells , Amniocyte , CVS
Indications
Diagnosis , Carrier Cascade Testing , Prenatal
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: June 23, 2025

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