Disorders

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Synonym(s): SED Tarda, X-Linked, SEDT, X-Linked SED, X-Linked Spondyloepiphyseal Dysplasia Tarda

Gene	Locus	Protein
TRAPPC2	Xp22	Trafficking protein particle complex subunit 2

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, 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
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of the entire coding region
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Sequence analysis of select exons

^* 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.