Disorders


 

Pseudohypoaldosteronism Type IIB


Synonym(s): PHA2B, PHAIIB

 

OMIM

GeneLocusProtein
WNK417q21-q22Serine/threonine-protein kinase WNK4

Laboratory Test Method Prenatal Carrier *
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany• Sequence analysis of the entire coding region
 
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain• Sequence analysis of select exons
 

* 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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