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
- DNA , Blood , Cultured Cells , CVS , Amniocyte
- Indications
- Carrier Cascade Testing , Diagnosis , 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