Disorders

Spondylometaphyseal Dysplasia, Kozlowski Type

Synonym(s): SMD, Kozlowski Type, SMDK

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

Laboratory	Test Method	Prenatal	Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA	• Sequence analysis of select exons
CeGaT GmbH - Tuebingen, Germany
CGC Genetics - Porto, Portugal
Connective Tissue Gene Tests - Allentown, PA, USA
diagenos - Osnabrueck, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of select exons
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* 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.