Molecular Genetics Biotinidase deficiency ( BTD ) gene analysis - NGS
Also Known As
Biotinidase Deficiency Gene Test, BTD Mutation Analysis, Late-onset Multiple Carboxylase Deficiency Screening, Biotin Responsiveness Test, Inborn Erro... Read more
Test Parameters Included
BTD gene variant analysis (NGS) - pathogenic/likely pathogenic mutations in biotinidase genePathologist Molecular Genetics Remark - variant classifica... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
No, fasting is not required for a molecular genetics Biotinidase deficiency (BTD) gene analysis-NGS test, as it only analyzes DNA from a blood sample,... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What does this test detect?This NGS test identifies pathogenic variants in the BTD gene causing biotinidase deficiency, an autosomal recessive disorde... Read more
Test Description
Test Code
MOG300
- High-end laboratory & medical equipment.
- Outstanding doctor team.
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- Tailormade health screening packages.