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Genetic Test Details

Propionic / Methylmalonic acidemias: MMA and homocysteinemia

Test Information

Titre
Propionic / Methylmalonic acidemias: MMA and homocysteinemia
Catégorie
Organic Acid Disorders
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
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes

Augmented exome backbone

Disease/Condition

homocysteinemia, Methylmalonic acidemia, MMA

Dernière Mise à Jour: 04 juin 2026