Disorders

Long QT Syndrome 1

Synonym(s): LQT 1, LQT1

Gene	Locus	Protein
KCNQ1	11p15.5	ATP-binding cassette transporter sub-family C member 9

Laboratory	Test Method	Prenatal	Carrier *
Aarhus University Hospital, Department of Molecular Medicine - Aarhus, Denmark	• Mutation scanning of the entire coding region
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
bio.logis Center for Human Genetics - Frankfurt, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Cliniques universitaires Saint Luc, Center for Human Genetics - Brussels, Belgium
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
Health in Code S.L. - A Coruña, Spain
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning of the entire coding region
InVitae Corporation - San Francisco, CA, USA
IRCCS Fondazione Salvatore Maugeri, Molecular Cardiology Laboratories - Pavia, Italy
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
Oslo University Hospital HF - Ullevaal, Department of Medical Genetics - Unit for Cardiac and Cardiavasular Genetics - Oslo, Norway
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany
Transgenomic - New Haven, CT, USA
University Hospital Lausanne, DNA Diagnostic Laboratory - Service de Génétique Médicale - Lausanne, Switzerland
University Hospital Münster, Institute for Genetics of Heart Diseases (IfGH) - Münster, 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.