Genetic Test Details
Propionic / Methylmalonic acidemias: Isolated Propionic Acidemia
Test Information
- Title
-
Propionic / Methylmalonic acidemias: Isolated Propionic Acidemia
- Category
- Metabolic
- Sub Category
-
Fatty Acid Oxidation Diseases
- Gene/Platform/Region List
-
PCCA, PCCB
- Test type
- Gene Panel
- 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: June 23, 2025