Molecular Genetics Smith-Lemli-Opitz syndrome ( DHCR7 ) - NGS
Also Known As
Smith-Lemli-Opitz Syndrome, DHCR7 Gene Analysis, 7-Dehydrocholesterol Reductase Deficiency, SLOS Molecular Testing, Congenital Cholesterol Biosynthesi... Read more
Test Parameters Included
DHCR7 Gene Variant Analysis (NGS) - pathogenic/likely pathogenic variants, VUS, and copy number changesPathologist Molecular Genetics Remark - correla... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
No fasting required; sample can be collected at any timeMaintain normal hydration; avoid strenuous exercise 24 hours before drawInform doctor about an... Read more
Schedule Report
25 Days
Emergency Report
Yes
Frequently Asked Questions
What does the DHCR7 NGS test detect?It identifies pathogenic variants in the DHCR7 gene responsible for Smith-Lemli-Opitz syndrome, an autosomal reces... Read more
Test Description
Test Code
MOG157
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.