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
DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Carrier Cascade Testing , Diagnosis
Test Methodology
Sequencing
Methodology Notes
Augmented exome backbone
Disease/Condition
homocysteinemia, Methylmalonic acidemia, MMA

Dernière Mise à Jour: 18 juin 2025