Disorders


 

Pycnodysostosis


Synonym(s): PKND, PYCD, Pyknodysostosis

 

OMIM

GeneLocusProtein
CTSK1q21Cathepsin K

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
CGC Genetics - Porto, Portugal  
Innovagenomics S.L, Innovagenomics - Salamanca, Spain  

* 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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