Disorders


 

Metaphyseal Chondrodysplasia, Jansen Type


 

OMIM

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

Laboratory Test Method Prenatal Carrier *
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
  
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• 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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