Genetic Test Details

Hydroxyglutaric Aciduria

Test Information

Titre
Hydroxyglutaric Aciduria
Catégorie
Mitochondrial
Sub Category
Mitochondrial nuclear gene
Gene/Platform/Region List
L2HGDH, D2HGDH, IDH2, SLC25A1
Test type
Gene Panel
Samples Accepted
DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Carrier Cascade Testing , Diagnosis
Test Methodology
Sequencing
Methodology Notes
Augmented exome backbone
Disease/Condition
Hydroxyglutaric Aciduria, Isocitrate Dehydrogenase Type 2 Deficiency, Combined Hydroxyglutaric Aciduria

Dernière Mise à Jour: 18 juin 2025