Disorders

ENG-Related Hereditary Hemorrhagic Telangiectasia

Synonym(s): ENG-Related HHT, Hereditary Hemorrhagic Telangiectasia Type 1, HHT1, Osler-Rendu-Weber Syndrome 1

Gene	Locus	Protein
ENG	9q34.11	Endoglin

Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
GSTS Pathology, DNA Laboratory - London, Great Britain
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
Hospital Italiano de Buenos Aires, ICBME - Unidad de Medicina Molecular y Genómica - Buenos Aires, Argentina
Impact Genetics, HHT Solutions - Molecular Diagnostic Laboratory - Toronto, Canada	• Linkage analysis
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning of the entire coding region
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Mayo Clinic - Minnesota, Cardiovascular Laboratory Medicine Genetics - Rochester, MN, USA
Medgene, MedGene - Bratislava, Slovakia
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Odense University Hospital, Department of Genetics - Odense, Denmark
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Secugen SL - Madrid, Spain
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands
University of Goettingen, Institute of Human Genetics - Goettingen, Germany
University of Pennsylvania School of Medicine, Genetic Diagnostic Laboratory - Philadelphia, PA, 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.