Propionic / Methylmalonic acidemias: Isolated Propionic Acidemia

Test Information

Title
Propionic / Methylmalonic acidemias: Isolated Propionic Acidemia
Lab
Category
Metabolic
Test Name (CMS Title)
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
PCCA, PCCB
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Propionic acidemia, propionyl-CoA carboxylase deficiency

Last Updated: November 14, 2025

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