Disorders


 

Pyruvate Dehydrogenase Phosphatase Deficiency


Synonym(s): Lactic Acidemia with Pyruvate Dehydrogenase Phosphatase Deficiency

 

OMIM

GeneLocusProtein
PDP18q22.1[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial

Laboratory Test Method Prenatal Carrier *
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
• Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• 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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