Genetic Test Details

Propionic / Methylmalonic acidemias: Isolated MMA

Test Information

Title
Propionic / Methylmalonic acidemias: Isolated MMA
Category
Metabolic
Sub Category
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
ACSF3, ALDH6A1, MCEE, MLYCD, MMAA, MMAB, MMUT, SUCLA2, SUCLG1
Test type
Gene Panel
Samples Accepted
DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Carrier Cascade Testing , Diagnosis
Test Methodology
Sequencing
Disease/Condition
Isolated Methylmalonic Aciduria

Last Updated: June 23, 2025