Hydroxyglutaric Aciduria

Test Information

Title
Hydroxyglutaric Aciduria
Lab
Category
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
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: November 14, 2025

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