Molecular Genetics Propionicacidemia ( PCCA ) gene sequencing - NGS
Also Known As
Propionic Acidemia Gene Test, PCCA Mutation Analysis, Propionyl-CoA Carboxylase Alpha Subunit Gene Sequencing, Organic Acidemia Genetic Test, PCCA Gen... Read more
Test Parameters Included
PCCA gene sequencing analysis - identification of pathogenic variants, missense/nonsense/frameshift mutations and copy number variations in the Propio... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
For a molecular genetics test to diagnose Propionic Acidemia, fasting is generally not required; a blood sample taken while the patient is on their re... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What is this test used for?This NGS-based test identifies pathogenic variants in the PCCA gene responsible for Propionic Acidemia, an autosomal recess... Read more
Test Description
Test Code
MOG341
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