List of diseases covered by
Methylmalonic Aciduria and Homocystinuria NGS panel
| Gene | Condition |
| ABCD4 | Methylmalonic aciduria and homocystinuria, cblJ type |
| ACSF3 | Combined malonic and methylmalonic aciduria |
| AMN | Megaloblastic anemia-1, Norwegian type |
| CBLIF | Intrinsic factor deficiency |
| CBS | Homocystinuria, B6-responsive and nonresponsive types |
| CD320 | Methylmalonic aciduria, transient, due to transcobalamin receptor defect |
| CUBN | Megaloblastic anemia-1, Finnish type |
| IVD | Isovaleric acidemia |
| LMBRD1 | Methylmalonic aciduria and homocystinuria, cblF type |
| MCEE | Methylmalonyl-CoA epimerase deficiency |
| MLYCD | Malonyl-CoA decarboxylase deficiency |
| MMAA | Methylmalonic aciduria, vitamin B12-responsive |
| MMAB | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type |
| MMACHC | Methylmalonic aciduria and homocystinuria, cblC type |
| MMADHC | Methylmalonic aciduria and homocystinuria, cblD type |
| MTHFR | Homocystinuria due to MTHFR deficiency |
| MTR | Homocystinuria-megaloblastic anemia, cblG complementation type |
| MTRR | Homocystinuria-megaloblastic anemia, cbl E type |
| MUT | Methylmalonic aciduria, mut(0) type |
| SUCLA2 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
| SUCLG1 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) |
| TCN2 | Transcobalamin II deficiency |