Disorders


 

Metachondromatosis


 

OMIM

GeneLocusProtein
PTPN1112q24.1Tyrosine-protein phosphatase non-receptor type 11

Laboratory Test Method Prenatal Carrier *
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GeneDx - Gaithersburg, MD, USA  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  

* 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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