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: 18 juin 2025