Genetic Test Details

MADD/Glutaric aciduria type 2

Test Information

Titre
MADD/Glutaric aciduria type 2
Catégorie
Metabolic
Sub Category
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
ETFA, ETFB, ETFDH, FLAD1, SLC52A1, SLC52A2, SLC52A3
Test type
Gene Panel
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: 06 janvier 2026