Disorders

Campomelic Dysplasia

Synonym(s): Campomelic Dwarfism, Campomelic Syndrome, Camptomelic Dwarfism, Camptomelic Dysplasia

Gene	Locus	Protein
SOX9	17q23	Transcription factor SOX-9

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Centre Hospitalier de Versailles, Batiment EFS, Unit de Gntique Constitutionnelle - Le Chesnay, France
Connective Tissue Gene Tests - Allentown, PA, USA
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
diagenos - Osnabrueck, Germany
GeneDx - Gaithersburg, MD, USA
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
GENETAQ, Molecular Genetics Centre - Malaga, Spain
InVitae Corporation - San Francisco, CA, USA
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
Medgene, MedGene - Bratislava, Slovakia
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Praxis fuer Humangenetik Wien - Vienna, Austria
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany

^* 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.