Propionic / Methylmalonic acidemias: Isolated MMA

Test Information

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

Dernière Mise à Jour: 09 décembre 2025