Disorders

EVC2-Related Ellis-van Creveld Syndrome

Gene	Locus	Protein
EVC2	4p16.2-p16.1	Ellis-van Creveld syndrome protein

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany	• Linkage analysis
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Linkage analysis
Connective Tissue Gene Tests - Allentown, PA, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain
UMass Memorial Medical Center, Molecular Diagnostics Laboratory - Shrewsbury, MA, USA

^* 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.