Funded by the
National Institutes of Health

CFTR-Related Disorders
Includes: Congenital Absence of the Vas Deferens | Cystic Fibrosis

Select all clinical laboratories
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Linkage analysis	Deletion/duplication analysis	Mutation scanning of select exons	Prenatal diagnosis	Carrier testing
ARUP Laboratories Molecular Genetics Laboratory Salt Lake City, UT Elaine Lyon, PhD; Rong Mao, MD; Edward R Ashwood, MD; Pinar Bayrak-Toydemir, MD, PhD
Acibadem Healthcare Group Acibadem Genetic Diagnostic Center Istanbul, Turkey Ender Altiok, MD, PhD
Ambry Genetics Corp Ambry Genetics Aliso Viejo, CA James Thompson, MD, PhD
Amplexa Genetics A/S Amplexa Genetics Odense, Denmark Klaus Brusgaard, PhD, MSC; Hans Atli Dahl
Baylor College of Medicine Medical Genetics Laboratories Houston, TX Christine M Eng, MD, FACMG; William E O'Brien, PhD; Lee-Jun Wong, PhD; Sau W. Cheung, PhD
Beaumont Hospital, Royal Oak Molecular Pathology Laboratory Royal Oak, MI Domnita Crisan, MD
BioLab spol. s.r.o. Molecular Biology Laboratory Klatovy, Czech Republic Frantisek Musil, MUDr
Boston University School of Medicine Center for Human Genetics Boston, MA Aubrey Milunsky, MD, DSc
Burc Molecular Genetics Diagnostic and Research Laboratory Istanbul, Turkey Ozdal Etlik, Dr, MD; Vedat Koksal, Dr, MD, PhD
CGB Laboratory Inc Ostrava, Czech Republic Magdalena Uvirova, RNDr
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Linkage analysis	Deletion/duplication analysis	Mutation scanning of select exons	Prenatal diagnosis	Carrier testing
CIBIC S.A. Rosario, Argentina Oscar H Fay, PhD; Fabian F Fay, MD
Canterbury Health Laboratories Molecular Pathology Laboratory Christchurch, New Zealand Peter M George, MB, BS, FRCPA; Andrew P Fellowes, PhD
Case Western Reserve University Center for Human Genetics Laboratory Cleveland, OH Christine A Curtis, PhD, FACMG; Linda Jeng, MD, PhD, FACMG
Center for Human Genetics Bioscientia GmbH Ingelheim, Germany Jochen Decker, MD, PhD; Daniela Steinberger, MD, PhD
Centogene GmbH Institute of Molecular Diagnostics Rostock, Germany Christoph Ehlers
Centre Hospitalier de Versailles, Batiment EFS SESEP Le Chesnay, France Etienne Mornet, PhD; Brigitte Simon-Bouy, MD, PhD
Centre for DNA Fingerprinting and Diagnostics Diagnostics Division Hyderabad, India Ashwin B Dalal, DM (Medical Genetics)
Centro de Genetica Clinica Centro Genetica Clinica Porto, Portugal Purificacao Tavares, MD, PhD; Paula Rendeiro, CTO
Charles University, 1st Faculty of Medicine Molecular Diagnostic Laboratory Prague, Czech Republic Malada Kohoutova, MD, PhD
Children's & Women's Health Centre of BC Molecular Genetics Laboratory Vancouver, British Columbia, Canada Brett Casey, MD
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Linkage analysis	Deletion/duplication analysis	Mutation scanning of select exons	Prenatal diagnosis	Carrier testing
Children's Hospital of Eastern Ontario Molecular Genetics Diagnostic Laboratory Ottawa, Ontario, Canada Nancy Carson, PhD, FCCMG; Elizabeth McCready, PhD, FCCMG
Children's University Hospital G2/811 Human Genetics Berne, Switzerland Sabina Gallati, PhD, Prof.
Cincinnati Children's Hospital Medical Center Molecular Genetics Laboratory Cincinnati, OH Kejian Zhang, MD, MBA
City of Hope National Medical Center City of Hope's Molecular Diagnostic Laboratory Duarte, CA Lawrence M Weiss, MD; Juan-Sebastian Saldivar, MD, FACMG; Wenqi Zeng, PhD, FACMG
Cyprus Institute of Neurology and Genetics Molecular Genetics Nicosia, Cyprus Leonidas A Phylactou, PhD
CytoGenX Stony Brook, NY Teresa Dunn, PhD
Dartmouth-Hitchcock Medical Center Molecular Pathology Laboratory Lebanon, NH Gregory J Tsongalis, PhD, HCLD, CLSpMB
Dayton Children's Medical Center Molecular and Biochemical Genetics Laboratory Dayton, OH Marvin E Miller, MD
Detroit Medical Center University Laboratories Molecular Genetics Diagnostic Laboratory Detroit, MI Gerald L Feldman, MD, PhD, FACMG; Fatimah Nahhas, PhD
Diagnostic Services of Manitoba, Health Sciences Centre site Molecular Diagnostic Laboratory Winnipeg, Manitoba, Canada Elizabeth L Spriggs, PhD, FCCMG; Reena Ray, PhD, FCCMG
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Linkage analysis	Deletion/duplication analysis	Mutation scanning of select exons	Prenatal diagnosis	Carrier testing
Duke University Health System Molecular Diagnostics Laboratory Durham, NC Michael B Datto, MD, PhD; Siby Sebastian, PhD; Catherine Rehder, PhD
Edith Wolfson Medical Center Molecular Genetics Laboratory Holon, Israel Esther Leshinsky-Silver, PhD
Emory University School of Medicine Emory Molecular Genetics Laboratory Atlanta, GA Madhuri Hegde, PhD, FACMG; Bradford Coffee, PhD, FACMG; Lora JH Bean, PhD, FACMG
Esoterix, Inc. Molecular Endocrinology Calabasas Hills, CA Samuel H Pepkowitz, MD; Frank K Fujimura, PhD, FACMG
GENDA Ciudad autonoma de Buenos Aires, Argentina Viviana Bernath, PhD; Mariana Herrera, PhD
GENNET s.r.o. GENNET - Laboratory of Molecular Genetics Prague, Czech Republic Martina Putzova, Dr
Genexpress Ltd Molecular Genetics Laboratory Bratislava, Slovenia Ludovit Kadasi, DSc
Genomac International, s.r.o. Laboratory for Molecular Genetics Prague, Czech Republic Marek Minarik, PhD; Lucie Benesova, PhD
Genos Genos S.A. Buenos Aires, Argentina Jose Maria Sanchez, MD
Genzyme Genetics Molecular Diagnostic Laboratory Westborough, MA Nicole Faulkner Castro, PhD, DABMG; Narasimhan Nagan, PhD, FACMG ; Ruth Heim, PhD, FACMG; Elizabeth Rohlfs, PhD, FACMG; Lynne Rosenblum-Vos, PhD, FACMG; Deborah Alexa Sirko-Osadsa, PhD, FACMG; Zhaoqing Zhou, PhD, DABMG; Hui Zhu, PhD, FACMG
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Linkage analysis	Deletion/duplication analysis	Mutation scanning of select exons	Prenatal diagnosis	Carrier testing
Greenwood Genetic Center Molecular Diagnostic Laboratory Greenwood, SC Julie Jones, PhD; Monica Basehore, PhD
Guy's and St Thomas' NHS Foundation Trust DNA Laboratory London, United Kingdom Stephen Abbs, PhD, FRCPath
HIBM Research Group Encino, CA Marvin Pietruszka, MD, JD
HUSLAB Laboratory of Molecular Genetics Helsinki, Finland Aarno Palotie, MD, PhD; Arto K Orpana, PhD
Ha'Emek Medical Center Molecular Genetics Unit Afula, Israel Yasir Hujeirat, PhD
Hartford Hospital-Hartford-CT-USA Clinical Lab Partners / Molecular Genetics and Cytogenetics Newington, CT Laila Mnayer, MS, PhD, FACMG
Harvard Medical School Laboratory for Molecular Medicine Boston, MA Raju Kucherlapati, PhD; Heidi Rehm, PhD; Victoria Joshi, PhD; Birgit Funke, PhD
Indiana University Medical Center, School of Medicine IU Molecular Genetics Services Indianapolis, IN Bryan E Hainline, MD, PhD
Institute of Human Genetics Giessen, Germany Ulrich Mueller, MD, PhD
Johns Hopkins Hospital DNA Diagnostic Laboratory Baltimore, MD Garry R Cutting, MD; Steven J Steinberg, PhD
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Linkage analysis	Deletion/duplication analysis	Mutation scanning of select exons	Prenatal diagnosis	Carrier testing
Karolinska University Hospital Department of Clinical Genetics Stockholm, Sweden Magnus Nordenskjold, MD, PhD; Kristina Lagerstedt Robinson, PhD; Helena Malmgren, PhD
Kimball Genetics, Inc. Molecular Diagnostic Laboratory Denver, CO Annette K Taylor, PhD, FACMG
LabCorp Molecular Biology Research Triangle Park, NC Kenneth J Friedman, PhD
Labor f�r Humangenetik MVZ Humane Genetik M�nchen, Germany Claudia Nevinny-Stickel-Hinzpeter, Dr, Dr
London Health Sciences Centre Molecular Diagnostic Laboratory London, Ontario, Canada Peter J Ainsworth, BSc, PhD, MBChB, FRCPC
Mayo Clinic - Minnesota Molecular Genetics Laboratory Rochester, MN Stephen N Thibodeau, PhD; D Brian Dawson, PhD ; W Edward Highsmith, PhD; Kevin Halling, MD, PhD; Matthew John Ferber, PhD
McGill University Health Centre Molecular Genetics Unit Montreal, Quebec, Canada Andrea Frota-Ruchon, MD, PhD, FABMG, FCCMG
Medical University of South Carolina Molecular Pathology Charleston, SC Daynna J Wolff, PhD
Medizinisch Genetisches Zentrum Munich, Germany Elke Holinski-Feder, MD
Memorial University of Newfoundland Molecular Genetics Laboratory St. John's, Newfoundland, Canada Yagang Xie, MD, Dr Med Sci, FCCMG
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Linkage analysis	Deletion/duplication analysis	Mutation scanning of select exons	Prenatal diagnosis	Carrier testing
Michigan State University DNA Diagnostic Laboratory East Lansing, MI Sainan Wei, PhD
Molecular Pathology Laboratory Molecular Pathology Laboratory Network, Inc. Maryville, TN Nicholas T Potter, PhD, FACMG
Mount Sinai School of Medicine Genetic Testing Laboratory (DNA Division) New York, NY Ruth Kornreich, PhD; Lisa Edelmann, PhD
National Centre for Cystic Fibrosis Department of Biology and Medical Genetics Prague, Czech Republic Milan Macek, Jr, Prof, MD, PhD
Nationwide Children's Hospital Molecular Genetics Laboratory Columbus, OH Julie M Gastier-Foster, PhD; Caroline Astbury, PhD; Robert E Pyatt, PhD
New Jersey Medical School Institute of Genomic Medicine Newark, NJ James J Dermody, PhD
New York Presbyterian Hospital - Weill Cornell Medical Center Molecular Pathology New York, NY John Sipley, PhD; Hanna Rennert, PhD
New York University School of Medicine Molecular Genetics Laboratory New York, NY Harry Ostrer, MD; Carole Oddoux, PhD
Northwick Park & St Mark's Hospitals Kennedy-Galton Centre, NW Thames Regional Genetics Service Harrow, United Kingdom Stewart Payne, DipRCPath
Opmedic Group Inc. Genetic Laboratory Mont-Royal, Quebec, Canada Gilles Brisson, PhD, CSPQ, FACB
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Linkage analysis	Deletion/duplication analysis	Mutation scanning of select exons	Prenatal diagnosis	Carrier testing
Oregon Health & Science University Molecular Diagnostic Center Portland, OR Sue Richards, PhD; Richard D Press, MD, PhD
PerkinElmer Genetics, Inc. Bridgeville, PA Joseph M Quashnock, PhD, HCLD(ABB), FACB; Zhili Lin, MD, PhD, HCLD(ABB), FACB
PreventionGenetics Molecular Diagnostics and BioBanking Marshfield, WI James L Weber, PhD; Bruce R Krawisz, MD; Thomas L Winder, PhD, FACMG
ProGene, Inc University Children's Genetics Laboratory Glendale, CA Toni R Prezant, PhD; William Huang, MD
Quest Diagnostics Nichols Institute - California Molecular Genetics Laboratory San Juan Capistrano, CA Charles Strom, MD, PhD; Weimin Sun, PhD, ABMG, CGMB, CLSP(MB); Arlene Buller, PhD, DABMG, HCLD, CGMB; Mei Peng, PhD, FACMG, CGMB; Franklin Quan, PhD, FACMG, CGMB
Quest Diagnostics Nichols Institute - Virginia Molecular Genetics Laboratory Chantilly, VA V M Pratt, PhD; Kasinathan Muralidharan, PhD
Ravgen Inc Ravgen Diagnostics Columbia, MD Ravinder Dhallan, MD, PhD, MBA
Research & Innovation Research and Innovation Padova, Italy Alberta Leon, BSc, PhD; Antonino D'Arrigo, BSc, PhD; Elda Del Giudice, BSc, PhD
SUNY Upstate Medical University Molecular Diagnostic Laboratory Syracuse, NY A E Shrimpton, PhD; Constance K Stein, PhD
Sacred Heart Medical Center Department of Laboratory Medicine/Molecular Diagnostic Division Spokane, WA Marcy L Hoffmann, PhD; Bassem A Bejjani, MD, FACMG
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Linkage analysis	Deletion/duplication analysis	Mutation scanning of select exons	Prenatal diagnosis	Carrier testing
Samsung Medical Center Department of Laboratory Medicine & Genetics Seoul, South Korea Sun Hee Kim, MD, PhD; Jong-Won Kim, MD, PhD; Soo-Youn Lee, MD, PhD; Chang-Seok Ki, MD, PhD
Sir Ganga Ram Hospital Department of Genetic Medicine New Delhi, India I C Verma, MD, FAAP, FRCP, FAMS; Renu Saxena, PhD; Meena Lall, PhD
Sistemas Genomicos Medical Genetics Unit Paterna, Valencia, Spain Javier Garcia-Planells, PhD
Specialty Laboratories Molecular Genetics Laboratory Valencia, CA Milhan Telatar, PhD, FACMG
St John Medical Center Regional Medical Laboratory Tulsa, OK Cindi R Starkey, MD, PhD; Gerald C Miller, PhD
Stanford Clinical Laboratories Molecular Pathology Laboratory Palo Alto, CA Iris Schrijver, MD; James L Zehnder, MD
Stoney Brook University Medical Center Molecular Genetics Laboratory Stony Brook, NY Silvia G. Spitzer, PhD, HCLD (ABB)
The Hospital for Sick Children Molecular Genetics Laboratory Toronto, Ontario, Canada Peter N Ray, PhD, FCCMG, FACMG; Tracy L Stockley, PhD, FCCMG
The Nebraska Medical Center Molecular Diagnostic Laboratory Omaha, NE Catherine Gebhart, PhD; James L Wisecarver, MD; Timothy Greiner, MD
Tulane University School of Medicine Hayward Genetics Center Molecular Diagnostics Laboratory New Orleans, LA Marilyn Li, MD
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Linkage analysis	Deletion/duplication analysis	Mutation scanning of select exons	Prenatal diagnosis	Carrier testing
UCLA Medical Center Diagnostic Molecular Pathology Laboratory Los Angeles, CA Wayne W Grody, MD, PhD; Richard A Gatti, MD
United States Air Force DNA Diagnostic Laboratory Keesler AFB, MS Michael T Bashford, MD; David T Rigdon, MD
University Children's Hospital Labor Molekulargenetik, Abteilung Medizinische Genetik Basel, Switzerland Karl Heinimann, MD, PhD
University Hospital Ostrava DNA Diagnostics Laboratory Ostrava, Czech Republic Eva Silhanova
University of Alberta Molecular Diagnostic Laboratory Edmonton, Alberta, Canada Martin Somerville, PhD, FCCMG, FACMG; Stacey Bleoo, PhD, FCCMG
University of Antwerp Department of Medical Genetics - Wuyts Lab Antwerp, Belgium Wim Wuyts, PhD
University of Calgary Molecular Diagnostic Laboratory Calgary, Alberta, Canada Peter Bridge, PhD, FCCMG, FACMG; Jillian Parboosingh, PhD, FCCMG
University of California Davis Health System Molecular and Cytogenetic Laboratory Sacramento, CA Jeff Gregg, MD
University of California San Diego Molecular Genetics Laboratory La Jolla, CA Linda M Wasserman, MD
University of California, San Francisco Molecular Diagnostics Laboratory San Francisco, CA Farid F Chehab, PhD
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Linkage analysis	Deletion/duplication analysis	Mutation scanning of select exons	Prenatal diagnosis	Carrier testing
University of Colorado Denver School Medicine DNA Diagnostic Laboratory Aurora, CO Elaine B Spector, PhD; Gunter Scharer, MD, PhD
University of Connecticut Health Center Human Molecular Genetics Laboratory Farmington, CT Min Fang, MD, PhD
University of Miami Diagnostic Laboratories - Molecular Genetics Miami, FL Lisa Baumbach Reardon, PhD, FACMG; Louis J Elsas, MD, FFACMG
University of Michigan Molecular Diagnostics Laboratory Ann Arbor, MI Kojo SJ Elenitoba-Johnson
University of North Carolina Hospitals Molecular Genetics Chapel Hill, NC Karen E Weck, MD
University of Oklahoma Health Sciences Center Genetics Laboratory Oklahoma City, OK John J Mulvihill, MD; Shibo Li, MD
University of Pennsylvania School of Medicine Molecular Pathology Laboratory Philadelphia, PA Vivianna M Van Deerlin, MD, PhD
University of Roma Tor Vergata Servizio di Genetica Rome, Italy Giuseppe Novelli, PhD; Federica Sangiuolo, PhD
University of Tennessee Medical Center Molecular Diagnostics Laboratory Knoxville, TN Karla J Matteson, PhD
University of Virginia Health System Molecular Diagnostics Laboratory Charlottesville, VA Lawrence M Silverman, PhD; Mani Mahadevan, MD
University of Washington Medical Center Laboratory Medicine-Genetics Laboratory Seattle, WA Karen Stephens, PhD; Jonathan F Tait, MD, PhD
Vanderbilt Medical Center Molecular Genetics Laboratory Nashville, TN Cindy Vnencak-Jones, PhD
Wake Forest University School of Medicine Section on Medical Genetics Winston-Salem, NC Patrick P Koty, PhD
Washington University School of Medicine Molecular Diagnostic Laboratory St. Louis, MO Barbara Zehnbauer, PhD, FACMG

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National Human Genome Research Institute, NIH

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