Propionic / Methylmalonic acidemias: MMA and homocysteinemia
| Test Information | |
|---|---|
| Test Name | Propionic / Methylmalonic acidemias: MMA and homocysteinemia |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | 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, Dried Blood Spot (accepted ONLY for exceptional circumstances) |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Methodology Notes | Augmented exome backbone |
| Diseases/Conditions | homocysteinemia, Methylmalonic acidemia, MMA |