Disorders

Dyssegmental Dysplasia, Silverman-Handmaker Type

Gene	Locus	Protein
HSPG2	1p36.1-p35	Basement membrane-specific heparan sulfate proteoglycan core protein

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
University of Lausanne, Division of Molecular Pediatrics - Lausanne, Switzerland

^* 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.