Disorders


 

Phosphoglycerate Dehydrogenase Deficiency


Synonym(s): PHGDH Deficiency

 

OMIM

GeneLocusProtein
PHGDH1p12D-3-phosphoglycerate dehydrogenase

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• 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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