MADD/Glutaric aciduria type 2

Test Information

Titre
MADD/Glutaric aciduria type 2
Lab
Catégorie
Metabolic
Test Name (CMS Title)
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
ETFA, ETFB, ETFDH, FLAD1, SLC52A1, SLC52A2, SLC52A3
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Multiple acyl-CoA dehydrogenase deficiency (MADD), Glutaric acidemia type II

Dernière Mise à Jour: 09 décembre 2025