2026

GTD Indications Diagnosis Carrier / Cascade Testing Prenatal GTD Samples Accepted Blood DNA Cultured Cells Amniocyte CVS GTD Test Methodology Sequencing GTD Methodology Notes Direct Exon Sequencing
Generic Test name (cms title) Smith-Lemli-Opitz Syndrome GTD Test type Single Gene GTD Location Hamilton Health Sciences Centre GTD Gene/Platform/Region List DHCR7
GTD Category Metabolic GTD Disease/Condition Smith-Lemli-Opitz Syndrome (SLOS), RSH syndrome, Smith-Lemli-Opitz syndrome type II, 7-dehydrocholesterol reductase deficiency, DHCR7 abnormality