Laboratory	Test Method	Prenatal	Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Targeted mutation analysis
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia	• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Targeted mutation analysis
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA	• Targeted mutation analysis
CeGaT GmbH - Tuebingen, Germany	• Sequence analysis of the entire coding region
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA	• 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	• Sequence analysis of the entire coding region
Center for Human Genetics, Inc - Cambridge, MA, USA	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
CGC Genetics - Porto, Portugal	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Children's Hospital of Eastern Ontario, Molecular Genetics Diagnostic Laboratory - Ottawa, Canada	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA	• Targeted mutation analysis
Cologne University, Institute of Human Genetics - Cologne, Germany	• Targeted mutation analysis
Cyprus Institute of Neurology and Genetics, Molecular Genetics, Function and Therapy - Nicosia, Cyprus	• Sequence analysis of the entire coding region • Targeted mutation analysis
Diagnostic Services of Manitoba, Health Sciences Centre site, Molecular Diagnostic Laboratory - Winnipeg, Canada	• Deletion/duplication analysis
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Targeted mutation analysis • Deletion/duplication analysis
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel	• Targeted mutation analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Faculty of Medicine, Pontificia Universidad Católica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service - Santiago, Chile	• Targeted mutation analysis
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada	• Deletion/duplication analysis
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain	• Sequence analysis of the entire coding region • Targeted mutation analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada	• Sequence analysis of the entire coding region • Targeted mutation analysis
McGill University Health Centre, Molecular Genetics Laboratory - Montreal, Canada	• Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia	• Sequence analysis of the entire coding region • Deletion/duplication analysis
National University Hospital, Molecular Diagnosis Centre - Department of Laboratory Medicine - Singapore, Singapore	• Sequence analysis of the entire coding region
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA	• Targeted mutation analysis
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Praxis fuer Humangenetik Wien - Vienna, Austria	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Providence Sacred Heart Medical Center and Children's Hospital, Department of Laboratory Medicine/Molecular Diagnostic Division - Spokane, WA, USA	• Targeted mutation analysis
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA	• Sequence analysis of the entire coding region
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel	• Linkage analysis
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA	• Targeted mutation analysis
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium	• Sequence analysis of the entire coding region • Deletion/duplication analysis
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada	• Deletion/duplication analysis
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA	• Targeted mutation analysis
University of Iowa Hospital and Clinics, Molecular Otolaryngology and Renal Research Laboratories - Iowa City, IA, USA	• Targeted mutation analysis
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA	• Targeted mutation analysis
University of North Carolina Hospitals, Molecular Genetics - Chapel Hill, NC, USA	• Targeted mutation analysis
University of Washington Medical Center, Laboratory Medicine-Genetics Laboratory - Seattle, WA, USA	• Sequence analysis of the entire coding region

^* 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.