Disorders


 

Hereditary Angioedema


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

 

OMIM

GeneLocusProtein
SERPING111q12.1Plasma 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.

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