Molecular Genetics Lysosomal acid lipase deficiency ( LIPA ) gene analysis - NGS
Also Known As
LIPA Gene Sequencing, Lysosomal Acid Lipase Deficiency Panel, Wolman Disease/Cholesteryl Ester Storage Disease Genetic Test, LAL Enzyme Deficiency NGS... Read more
Test Parameters Included
LIPA gene sequence analysis by NGS for pathogenic variantsPathologist Molecular Genetics Remark - correlated with clinical phenotype of Wolman disease... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
A molecular genetics test for Lysosomal acid lipase deficiency (LIPA) gene analysis using Next-Generation Sequencing (NGS) does not typically require ... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What does this test detect?It identifies pathogenic variants in the LIPA gene responsible for lysosomal acid lipase deficiency, including Wolman disea... Read more
Test Description
Test Code
MOG329
- High-end laboratory & medical equipment.
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