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
- Blood , DNA , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnosis , Carrier Cascade Testing
- 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