Propionic / Methylmalonic acidemias: Isolated MMA
| Test Information | |
|---|---|
| Test Name | Propionic / Methylmalonic acidemias: Isolated MMA |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Fatty Acid Oxidation Diseases |
| Gene/Platform/Region List | ACSF3, ALDH6A1, MCEE, MLYCD, MMAA, MMAB, MMUT, SUCLA2, SUCLG1 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances) |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Diseases/Conditions | Isolated Methylmalonic Aciduria |