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
CBS Homocystinuria, B6-responsive and nonresponsive types
CD320 Methylmalonic aciduria, transient, due to transcobalamin receptor defect
CUBN Megaloblastic anemia-1, Finnish type
GIF Intrinsic factor deficiency
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