Genetic Test Details
Smith-Lemli-Opitz Syndrome
Test Information
- Titre
-
Smith-Lemli-Opitz Syndrome
- Catégorie
- 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
- Diagnostics , 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
Dernière Mise à Jour: 18 juin 2025