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Genetic Test Details

Propionic / Methylmalonic acidemias

Test Information

Titre
Propionic / Methylmalonic acidemias
Catégorie
Organic Acid Disorders
Sub Category
Fatty Acid Oxidation Diseases
Gene/Platform/Region List

ABCD4, ACSF3, ALDH6A1, AMN, CBLIF, CD320, CUBN, HCFC1, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2

Test type
Gene Panel
Samples Accepted
Blood, DNA
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition

Propionic acidemia, propionyl-CoA carboxylase deficiency, homocysteinemia, Methylmalonic acidemia, MMA, Isolated Methylmalonic Aciduria

Dernière Mise à Jour: 04 juin 2026