Disorders


 

L-2-Hydroxyglutaric Aciduria


 

OMIM

GeneLocusProtein
L2HGDH14q22.1L-2-hydroxyglutarate dehydrogenase

Laboratory Test Method Prenatal Carrier *
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Analyte
  
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA• Analyte
  
GeneDx - Gaithersburg, MD, USA  
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Analyte
  
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands• Analyte
• Enzyme assay
  

* 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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