Genetic Test Details
Propionic / Methylmalonic acidemias: MMA and homocysteinemia
Test Information
- Title
-
Propionic / Methylmalonic acidemias: MMA and homocysteinemia
- Category
- Metabolic
- Sub Category
-
Fatty Acid Oxidation Diseases
- Gene/Platform/Region List
-
ABCD4, AMN, CBLIF, CD320, CUBN, HCFC1, LMBRD1, MMACHC, MMADHC, TCN1, TCN2
- Test type
- Gene Panel
- Samples Accepted
- Blood, DNA
- Indications
- Diagnosis, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Methodology Notes
-
Augmented exome backbone
- Disease/Condition
-
homocysteinemia, Methylmalonic acidemia, MMA
Last Updated: November 26, 2025