Disorders

Mandibuloacral Dysplasia

Synonym(s): Craniomandibular Dermatodysostosis

Gene	Locus	Protein
ZMPSTE24	1p34	CAAX prenyl protease 1 homolog

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Baylor College of Medicine, John Welsh Cardiovascular Diagnostic Laboratory - Houston, TX, USA
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Health in Code S.L. - A Coruña, Spain
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medical Neurogenetics - Atlanta, GA, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland	• Linkage analysis
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
University of Greifswald, Institute of Human Genetics - Greifswald, Germany
University of Iowa Hospitals and Clinics, Department of Pathology - Iowa City, IA, USA
University of Minnesota, University of Minnesota Physicians Outreach Laboratory - Minneapolis, MN, 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.