Propionic / Methylmalonic acidemias
Test Information
- Titre
-
Propionic / Methylmalonic acidemias
- Catégorie
- Metabolic
- Test Name (CMS Title)
-
Fatty Acid Oxidation Diseases
- Gene/Platform/Region List
-
ABCD4, ACSF3, ALDH6A1, AMN, CBLIF, CD320, CUBN, HCFC1, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2
- Test type
- Samples Accepted
- Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnostics, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Propionic acidemia, propionyl-CoA carboxylase deficiency, homocysteinemia, Methylmalonic acidemia, MMA, Isolated Methylmalonic Aciduria
Dernière Mise à Jour: 09 décembre 2025