Disorders

D-2-Hydroxyglutaric Aciduria 2

Synonym(s): D2HGA2, D-2-Hydroxyglutaric Aciduria II, D-2-Hydroxyglutaric Aciduria Type II

Gene	Locus	Protein
IDH2	15q21-qter	Isocitrate dehydrogenase [NADP], mitochondrial

Laboratory	Test Method	Prenatal	Carrier *
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands	• Sequence analysis of the entire coding region • Sequence analysis of select exons • Analyte

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.