Disorders


 

Dyssegmental Dysplasia, Silverman-Handmaker Type


 

OMIM

GeneLocusProtein
HSPG21p36.1-p35Basement membrane-specific heparan sulfate proteoglycan core protein

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
• 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.

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