Molecular Genetics Alpha-methylacetoacetic aciduria ( ACAT1 ) gene sequencing - NGS
Also Known As
ACAT1 Gene Sequencing, Ketothiolase Deficiency Testing, 3-Ketothiolase Deficiency, Alpha-Methylacetoacetate Decarboxylase Deficiency, AMAAuria Gene An... Read more
Test Parameters Included
ACAT1 Gene Sequence Analysis - identification of pathogenic variants (missense, nonsense, splice-site, insertions, deletions)Pathologist Molecular Gen... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
No fasting required; sample collection is unaffected by food intakeMaintain normal hydration before venipunctureInform doctor about any current medica... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What does the ACAT1 gene sequencing test detect?It identifies pathogenic variants in the ACAT1 gene responsible for alpha-methylacetoacetic aciduria, ... Read more
Test Description
Test Code
MOG298
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.