Propionic / Methylmalonic acidemias: MMA and homocysteinemia

Test Information

Titre
Propionic / Methylmalonic acidemias: MMA and homocysteinemia
Lab
Catégorie
Metabolic
Test Name (CMS Title)
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
ABCD4, AMN, CBLIF, CD320, CUBN, HCFC1, LMBRD1, MMACHC, MMADHC, TCN1, TCN2
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Augmented exome backbone
Disease/Condition
homocysteinemia, Methylmalonic acidemia, MMA

Dernière Mise à Jour: 09 décembre 2025