Disorders

Hereditary Angioedema

Synonym(s): C1 Esterase Inhibitor Deficiency, Hereditary Angioedema, Type I, Hereditary Angioneurotic Edema

Gene	Locus	Protein
SERPING1	11q12.1	Plasma protease C1 inhibitor

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
bio.logis Center for Human Genetics - Frankfurt, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Centre for Cardiovascular Surgery and Transplantation, Molecular Genetics Laboratory - Brno, Czech Republic	• Mutation scanning of the entire coding region
Centre Hospitalier Universitaire de Grenoble, Biochimie Genetique et Molculaire - Grenoble, France	• Linkage analysis • Enzyme assay • Protein analysis
Cliniques universitaires Saint Luc, Center for Human Genetics - Brussels, Belgium
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Sequence analysis of select exons
GeneDx - Gaithersburg, MD, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain

^* 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.