Molecular Genetics Carnitine palmitoyltransferase deficiency I ( CPT1A ) gene sequencing - NGS
Also Known As
CPT1A Gene Sequencing, Carnitine Palmitoyltransferase 1A Deficiency Testing, CPT1A Mutation Analysis, Systemic CPT1 Deficiency Gene Test, Fatty Acid O... Read more
Test Parameters Included
CPT1A Gene Sequence Analysis - identification of pathogenic and likely pathogenic variants in the carnitine palmitoyltransferase 1A genePathologist Mo... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
For a molecular genetics test to diagnose Carnitine palmitoyltransferase deficiency I (CPT1A) gene sequencing, fasting is usually not required as the ... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What does the CPT1A gene sequencing test detect?It identifies mutations in the CPT1A gene responsible for systemic carnitine palmitoyltransferase I de... Read more
Test Description
Test Code
MOG301
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