Test

Molecular Genetics Alpha-methylacetoacetic aciduria ( ACAT1 ) gene sequencing - NGS

₹52,500 ₹32,999
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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

Molecular Genetics Alpha-methylacetoacetic aciduria ( ACAT1 ) gene sequencing - NGS Examination A Molecular Genetics Alpha-methylacetoacetic aciduria ... Read more

Test Code

MOG298

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