Smith-Lemli-Opitz Syndrome
| Test Information | |
|---|---|
| Test Name | Smith-Lemli-Opitz Syndrome |
| Lab (Location) | Hamilton Health Sciences Centre |
| Category | Metabolic |
| Subcategory | Smith-Lemli-Opitz Syndrome |
| Gene/Platform/Region List | DHCR7 |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA, Cultured Cells, Amniocyte, CVS |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | Sequencing |
| Methodology Notes | Direct Exon Sequencing |
| Diseases/Conditions | Smith-Lemli-Opitz Syndrome (SLOS), RSH syndrome, Smith-Lemli-Opitz syndrome type II, 7-dehydrocholesterol reductase deficiency, DHCR7 abnormality |