Disorders


 

Hypophosphatemic Rickets, Autosomal Recessive 2


Synonym(s): ARHR2

 

OMIM

GeneLocusProtein
ENPP16q22-q23Ectonucleotide pyrophosphatase/phosphodiesterase family member 1

Laboratory Test Method Prenatal Carrier *
Connective Tissue Gene Tests - Allentown, PA, USA  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain  

* 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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