Disorders


 

D-2-Hydroxyglutaric Aciduria 1


Synonym(s): D2HGA1

 

OMIM

GeneLocusProtein
D2HGDH2p25.3D-2-hydroxyglutarate dehydrogenase, mitochondrial

Laboratory Test Method Prenatal Carrier *
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Analyte
  
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA• Analyte
  
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands• Sequence analysis of the entire coding region
• Analyte
• Enzyme assay
• Deletion/duplication analysis

* 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.

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