Disorders

Brachyolmia Type 2

Synonym(s): Brachyolmia, Maroteaux Type, Spondyloepiphyseal Dysplasia, Maroteaux Type

Gene	Locus	Protein
TRPV4	12q24.1	Transient receptor potential cation channel subfamily V member 4

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
CGC Genetics - Porto, Portugal
Connective Tissue Gene Tests - Allentown, PA, USA
diagenos - Osnabrueck, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.