Genetic Test Details
Propionic / Methylmalonic acidemias
Test Information
- Title
-
Propionic / Methylmalonic acidemias
- Category
- Metabolic
- Sub Category
-
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
- 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, homocysteinemia, Methylmalonic acidemia, MMA, Isolated Methylmalonic Aciduria
Last Updated: June 23, 2025