Disorders


 

Glycogen Storage Disease XI


Synonym(s): Lactate Dehydrogenase A Deficiency

 

OMIM

GeneLocusProtein
LDHA11p15.1L-lactate dehydrogenase A chain

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Enzyme assay
  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA• Deletion/duplication analysis
GSTS Pathology, DNA Laboratory - London, Great Britain• Sequence analysis of the entire coding region

* 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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