Disorders


 

Chondrodysplasia, Blomstrand Type


Synonym(s): BOCD

 

OMIM

GeneLocusProtein
PTH1R3p22-p21.1Parathyroid hormone/parathyroid hormone-related peptide receptor

Laboratory Test Method Prenatal Carrier *
GGA - Galil Genetic Analysis - Kazerin, Israel  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  

* 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.

Loading...