Propionic / Methylmalonic acidemias
| Test Information | |
|---|---|
| Test Name | Propionic / Methylmalonic acidemias |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | 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 | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Diseases/Conditions | Propionic acidemia, propionyl-CoA carboxylase deficiency, homocysteinemia, Methylmalonic acidemia, MMA, Isolated Methylmalonic Aciduria |