Genetic Test Details

Propionic / Methylmalonic acidemias: MMA and homocysteinemia

Test Information

Titre
Propionic / Methylmalonic acidemias: MMA and homocysteinemia
Catégorie
Metabolic
Sub Category
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
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Augmented exome backbone
Disease/Condition
homocysteinemia, Methylmalonic acidemia, MMA

Dernière Mise à Jour: 05 septembre 2025