Hydroxyglutaric Aciduria
Test Information
- Titre
-
Hydroxyglutaric Aciduria
- Catégorie
- Mitochondrial
- Test Name (CMS Title)
-
Mitochondrial nuclear gene
- Gene/Platform/Region List
-
L2HGDH, D2HGDH, IDH2, SLC25A1
- Test type
- Samples Accepted
- Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnostics, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Methodology Notes
-
Augmented exome backbone
- Disease/Condition
-
Hydroxyglutaric Aciduria, Isocitrate Dehydrogenase Type 2 Deficiency, Combined Hydroxyglutaric Aciduria
Dernière Mise à Jour: 09 décembre 2025