Genetic Test Details
Hydroxyglutaric Aciduria
Test Information
- Title
- Hydroxyglutaric Aciduria
- Category
- 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
Last Updated: June 23, 2025