Disorders


 

Methemoglobinemia Due to Deficiency of Methemoglobin Reductase


Synonym(s): NADH-Cytochrome b5 Reductase Deficiency, NADH-Dependent Methemoglobin Reductase Deficiency

 

OMIM

GeneLocusProtein
CYB5R322q13.2NADH-cytochrome b5 reductase 3

Laboratory Test Method Prenatal Carrier *
Centre de Biologie Est - Hospices Civils de Lyon, Maladies hrditaires du mtabolisme - Bron cedex, France• Sequence analysis of the entire coding region
• 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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