Molecular Genetics Congenital adrenal hyperplasia due to 3-betahydroxysteroid dehydrogenase 2 deficiency (HSD3B2) gene analysis-NGS
Also Known As
HSD3B2 Gene Sequencing, 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency Genetic Test, CAH Due to HSD3B2 Mutation Analysis, Steroid 3β-HSD2 Gene Panel... Read more
Test Parameters Included
HSD3B2 Gene Variant Analysis (c.124C>T, c.175C>T, c.479G>A, c.512G>A, c.535C>T) - NGS-based detection of pathogenic and likely pathogen... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
A "Molecular Genetics Congenital adrenal hyperplasia due to 3-beta hydroxysteroid dehydrogenase 2 deficiency (HSD3B2) gene analysis-NGS test" refers t... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What does this test detect?It identifies pathogenic variants in the HSD3B2 gene responsible for 3β-hydroxysteroid dehydrogenase 2 deficiency, a rare a... Read more
Test Description
Test Code
MOG236
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