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
- DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- Sequencing
- Methodology Notes
- Augmented exome backbone
- Disease/Condition
- homocysteinemia, Methylmalonic acidemia, MMA
Last Updated: June 23, 2025