Test

Molecular Genetics Smith-Lemli-Opitz syndrome ( DHCR7 ) - NGS

₹52,500 ₹35,999
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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

Molecular Genetics Smith-Lemli-Opitz syndrome ( DHCR7 ) - NGS Examination This molecular genetics test identifies pathogenic variants in the DHCR7 gen... Read more

Test Code

MOG157

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