Molecular Genetics Dihydrolipoamide dehydrogenase deficiency ( DLD ) gene sequencing - NGS
Also Known As
DLD Gene Sequencing, Dihydrolipoyl Dehydrogenase Deficiency Test, E3 Deficiency Gene Analysis, Dihydrolipoamide Dehydrogenase Gene Mutation Test, PDH/... Read more
Test Parameters Included
DLD gene full coding region and splice site sequencing (NGS)Pathologist Molecular Genetics Remark - variant classification per ACMG guidelines
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
For a molecular genetics test to detect Dihydrolipoamide dehydrogenase deficiency (DLD) gene mutations using Next Generation Sequencing (NGS), fasting... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What does the DLD gene sequencing test detect?It identifies pathogenic variants in the DLD gene that cause dihydrolipoamide dehydrogenase deficiency, ... Read more
Test Description
Test Code
MOG308
- High-end laboratory & medical equipment.
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