Disorders

Chondrodysplasia Punctata 2, X-Linked

Synonym(s): CDPX2, Conradi-Hunermann Syndrome, Happle Syndrome

Gene	Locus	Protein
EBP	Xp11.23-p11.22	3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

Laboratory	Test Method	Prenatal	Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning of the entire coding region
Kennedy Krieger Institute, Biochemical Genetics Laboratory - Baltimore, MD, USA	• Analyte
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Analyte
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands	• Analyte
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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.