Disorders


 

CHST3-Related Skeletal Dysplasia


Synonym(s): Chondrodysplasia with Congenital Joint Dislocations, CHST3 Type, CHST3 Deficiency, CHST3-Related Dysplasia

 

GeneReviewOMIM

GeneLocusProtein
CHST310q22.1Carbohydrate sulfotransferase 3

Laboratory Test Method Prenatal Carrier *
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
University of Lausanne, Division of Molecular Pediatrics - Lausanne, Switzerland• 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.

Loading...