Disorders

CFTR-Related Disorders

Gene	Locus	Protein
CFTR	7q31-q32	Cystic fibrosis transmembrane conductance regulator

Laboratory	Test Method	Prenatal	Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany	• Mutation scanning of the entire coding region • Linkage analysis
Akron Children's Hospital, Molecular Diagnostic Laboratory - Akron, OH, USA	• Targeted mutation analysis
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada	• Targeted mutation analysis
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA	• Targeted mutation analysis
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Targeted mutation analysis
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia	• Targeted mutation analysis
ATS GeneTech Private Limited, GeneTech - Hyderabad, India	• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Targeted mutation analysis
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada	• Targeted mutation analysis • Linkage analysis
bio.logis Center for Human Genetics - Frankfurt, Germany	• Targeted mutation analysis
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Burc Molecular Genetics Laboratory - Istanbul, Turkey	• Targeted mutation analysis
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany	• Targeted mutation analysis
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Targeted mutation analysis
Center for Human Genetics, Inc - Cambridge, MA, USA	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India	• Targeted mutation analysis
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India	• Targeted mutation analysis
Centre Hospitalier de Versailles, Batiment EFS, Unit de Gntique Constitutionnelle - Le Chesnay, France	• Sequence analysis of select exons • Targeted mutation analysis • Linkage analysis
CGB Laboratory Inc - Ostrava, Czech Republic	• Targeted mutation analysis
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
CGC Genetics USA, Cytogenetics and Molecular Diagnostics Lab - Newark, NJ, USA	• Targeted mutation analysis
Children's Hospital of Eastern Ontario, Molecular Genetics Diagnostic Laboratory - Ottawa, Canada	• Targeted mutation analysis • Linkage analysis
Children's University Hospital, Human Genetics - Berne, Switzerland
CIBIC S.A. - Rosario, Argentina	• Targeted mutation analysis
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA
Cologne University, Institute of Human Genetics - Cologne, Germany	• Sequence analysis of select exons • Targeted mutation analysis
Cyprus Institute of Neurology and Genetics, Molecular Genetics, Function and Therapy - Nicosia, Cyprus	• Targeted mutation analysis
CytoGenX - Stony Brook, NY, USA	• Targeted mutation analysis
Dayton Children's Medical Center, Molecular and Biochemical Genetics Laboratory - Dayton, OH, USA	• Targeted mutation analysis
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA	• Targeted mutation analysis
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA	• Targeted mutation analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Targeted mutation analysis
Diagnostic Services of Manitoba, Health Sciences Centre site, Molecular Diagnostic Laboratory - Winnipeg, Canada	• Targeted mutation analysis • Linkage analysis
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Sequence analysis of select exons
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA	• Targeted mutation analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Targeted mutation analysis
Esoterix, Inc., Molecular Endocrinology - Calabasas Hills, CA, USA	• Targeted mutation analysis
Faculty of Medicine, Pontificia Universidad Católica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service - Santiago, Chile	• Targeted mutation analysis
GENDA - Ciudad autonoma de Buenos Aires, Argentina	• Targeted mutation analysis • Linkage analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey	• Mutation scanning of the entire coding region • Targeted mutation analysis
Genetics Center, Molecular and Cytogenetic Diagnostic Laboratories - Orange, CA, USA	• Targeted mutation analysis
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia	• Targeted mutation analysis
Genetrack Biolabs Inc., Molecular Genetics Laboratory - Vancouver, Canada	• Targeted mutation analysis
Genexpress Ltd, Molecular Genetics Laboratory - Bratislava, Slovakia	• Targeted mutation analysis • Linkage analysis
GENNET s.r.o., Laboratory of Molecular Genetics - Prague, Czech Republic	• Targeted mutation analysis
Genomac International, s.r.o., Laboratory for Molecular Genetics - Prague, Czech Republic	• Targeted mutation analysis • Linkage analysis
GGA - Galil Genetic Analysis - Kazerin, Israel
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA	• Targeted mutation analysis
GSTS Pathology, DNA Laboratory - London, Great Britain	• Sequence analysis of select exons • Linkage analysis
Hartford Hospital-Hartford-CT-USA, Clinical Lab Partners/Molecular Genetics and Cytogenetics - Newington, CT, USA	• Targeted mutation analysis
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Sequence analysis of select exons • Targeted mutation analysis
HIBM Research Group - Reseda, CA, USA	• Targeted mutation analysis
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada	• Targeted mutation analysis
HUSLAB, Laboratory of Genetics - Helsinki, Finland	• Targeted mutation analysis
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain	• Targeted mutation analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of select exons • Targeted mutation analysis
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA	• Sequence analysis of select exons • Targeted mutation analysis
Intergen Genetics Centre - Ankara, Turkey	• Sequence analysis of select exons
InterGenetics - Diagnostic Genetic Center, InterGenetics - Athens, Greece	• Targeted mutation analysis
InVitae Corporation - San Francisco, CA, USA
IWK Health Centre, Molecular Diagnostic Laboratory - Halifax, Canada	• Targeted mutation analysis
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA	• Linkage analysis
Justus-Liebig University, Institute of Human Genetics - Giessen, Germany	• Mutation scanning of the entire coding region • Targeted mutation analysis
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden	• Targeted mutation analysis • Linkage analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
LabCorp, Molecular Biology - Research Triangle Park, NC, USA	• Targeted mutation analysis
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada	• Targeted mutation analysis
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA	• Targeted mutation analysis
McGill University Health Centre, Molecular Genetics Laboratory - Montreal, Canada	• Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia	• Targeted mutation analysis
Mercy St. Vincent Medical Center, Cytogenetics and Molecular Genetics Laboratory - Toledo, OH, USA	• Targeted mutation analysis
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• Targeted mutation analysis • Linkage analysis
Michigan State University, Clinical Genetics Laboratory - East Lansing, MI, USA	• Targeted mutation analysis
Molecular Pathology Laboratory, Molecular Pathology Laboratory Network, Inc. - Maryville, TN, USA	• Targeted mutation analysis
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory (DNA Division) - New York, NY, USA	• Targeted mutation analysis
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA	• Targeted mutation analysis
Nebraska Medical Center, Molecular Diagnostic Laboratory - Omaha, NE, USA	• Targeted mutation analysis
New Jersey Medical School, Institute of Genomic Medicine - Newark, NJ, USA	• Targeted mutation analysis
New York Presbyterian Hospital - Weill Cornell Medical Center, Molecular Pathology - New York, NY, USA	• Targeted mutation analysis
Northwick Park and St. Mark's Hospitals, Kennedy-Galton Centre - NW Thames Regional Genetics Service - Harrow, Great Britain	• Targeted mutation analysis • Linkage analysis
Nucleo de Genetica Medica de Minas Gerais, GENE - Belo Horizonte, Brazil	• Targeted mutation analysis
Opmedic Group Inc., Genetic Laboratory - Mont-Royal, Canada	• Targeted mutation analysis
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA	• Targeted mutation analysis
P.D. Hinduja National Hospital - MRC, Department of Laboratory Medicine - Mumbai, India	• Targeted mutation analysis
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA	• Targeted mutation analysis
Praxis fuer Humangenetik Wien - Vienna, Austria	• Targeted mutation analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Providence Sacred Heart Medical Center and Children's Hospital, Department of Laboratory Medicine/Molecular Diagnostic Division - Spokane, WA, USA	• Targeted mutation analysis
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA	• Targeted mutation analysis
Quest Diagnostics Nichols Institute - Virginia, Molecular Genetics Laboratory - Chantilly, VA, USA	• Targeted mutation analysis
Research and Innovation - Padova, Italy	• Targeted mutation analysis
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Sequenom CMM, Sequenom Center for Molecular Medicine - Grand Rapids - Grand Rapids, MI, USA	• Targeted mutation analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Sequence analysis of select exons • Targeted mutation analysis • Linkage analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Targeted mutation analysis
St James's University Hospital, Leeds Teaching Hospitals, Yorkshire Regional DNA Laboratory - Leeds, Great Britain	• Targeted mutation analysis • Linkage analysis
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA	• Targeted mutation analysis
Stony Brook University Medical Center, Molecular Genetics Laboratory - Stony Brook, NY, USA	• Targeted mutation analysis
SUNY Upstate Medical University, Molecular Diagnostic Laboratory - Syracuse, NY, USA	• Targeted mutation analysis • Linkage analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• Targeted mutation analysis
Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy	• Targeted mutation analysis • Linkage analysis
Tulane University School of Medicine, Hayward Genetics Center Molecular Diagnostics Laboratory - New Orleans, LA, USA	• Targeted mutation analysis
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA	• Targeted mutation analysis
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland	• Sequence analysis of select exons • Targeted mutation analysis
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany	• Targeted mutation analysis
University Hospital Lausanne, DNA Diagnostic Laboratory - Service de Génétique Médicale - Lausanne, Switzerland	• Targeted mutation analysis
University Hospital Motol, Department of Biology and Medical Genetics - Prague, Czech Republic	• Mutation scanning of the entire coding region • Targeted mutation analysis
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium	• Mutation scanning of the entire coding region
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany	• Targeted mutation analysis • Linkage analysis
University Hospital Ostrava, DNA Diagnostics Laboratory - Ostrava, Czech Republic	• Targeted mutation analysis
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA	• Targeted mutation analysis
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada	• Targeted mutation analysis
University of California Davis Health System, Molecular Diagnostic Laboratory - Sacramento, CA, USA	• Targeted mutation analysis
University of California Los Angeles, UCLA Diagnostic Molecular Pathology Laboratory - Los Angeles, CA, USA	• Targeted mutation analysis
University of California Los Angeles, UCLA Orphan Disease Testing Center (ODTC) - Los Angeles, CA, USA
University of California San Diego, Molecular Diagnostics Laboratory - La Jolla, CA, USA	• Targeted mutation analysis
University of California, San Francisco, Molecular Diagnostics Laboratory - San Francisco, CA, USA	• Targeted mutation analysis
University of Connecticut Health Center, Human Genetics Laboratory - Farmington, CT, USA	• Targeted mutation analysis
University of Greifswald, Institute of Human Genetics - Greifswald, Germany
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA	• Targeted mutation analysis
University of Michigan, Molecular Diagnostics Laboratory - Ann Arbor, MI, USA	• Targeted mutation analysis
University of North Carolina Hospitals, Molecular Genetics - Chapel Hill, NC, USA	• Targeted mutation analysis
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA	• Targeted mutation analysis
University of Pennsylvania School of Medicine, Molecular Pathology Laboratory - Philadelphia, PA, USA	• Targeted mutation analysis
University of Tennessee Medical Center, Molecular Diagnostics Laboratory - Knoxville, TN, USA	• Targeted mutation analysis
University of Washington Medical Center, Laboratory Medicine-Genetics Laboratory - Seattle, WA, USA	• Targeted mutation analysis
Vanderbilt University Medical Center, Molecular Diagnostics Laboratory - Nashville, TN, USA	• Targeted mutation analysis
Washington University School of Medicine, Molecular Diagnostic Laboratory - St. Louis, MO, USA	• Targeted mutation analysis

^* 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.