Laboratory	Test Method	Prenatal	Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark	• Targeted mutation analysis
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands	• Sequence analysis of the entire coding region • Targeted mutation analysis • Deletion/duplication analysis
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada	• Targeted mutation analysis
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis • Deletion/duplication analysis
bio.logis Center for Human Genetics - Frankfurt, Germany	• Sequence analysis of the entire coding region • Targeted mutation analysis • Deletion/duplication analysis
Birmingham Childrens Hospital NHS Foundation Trust, Regional Molecular Haemostasis Laboratory - Birmingham, Great Britain	• Sequence analysis of the entire coding region • Targeted mutation analysis • Deletion/duplication analysis
BloodCenter of Wisconsin, Molecular Diagnostics Laboratory - Milwaukee, WI, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India	• Targeted mutation analysis • Linkage analysis • Deletion/duplication analysis
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Cliniques universitaires Saint Luc, Center for Human Genetics - Brussels, Belgium	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region • Targeted mutation analysis • Deletion/duplication analysis
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany	• 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	• Sequence analysis of the entire coding region • Targeted mutation analysis
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland	• Targeted mutation analysis • Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia	• Linkage analysis
Genexpress Ltd, Molecular Genetics Laboratory - Bratislava, Slovakia	• Targeted mutation analysis • Linkage analysis
GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust, Molecular Haemostasis and Thrombosis - London, Great Britain	• Sequence analysis of the entire coding region • Targeted mutation analysis • Deletion/duplication analysis
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada	• Targeted mutation analysis • Linkage analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of the entire coding region • Targeted mutation analysis
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands	• Sequence analysis of the entire coding region • Mutation scanning of the entire coding region
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA	• Targeted mutation analysis
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Puget Sound Blood Center, Genomics - Bleeding Disorders - Seattle, WA, USA	• Sequence analysis of the entire coding region • Sequence analysis of select exons • Targeted mutation analysis • Linkage analysis • Deletion/duplication analysis
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA	• Targeted mutation analysis
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Sequence analysis of the entire coding region • Targeted mutation analysis • Deletion/duplication analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Linkage analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of the entire coding region • Targeted mutation analysis • Linkage analysis
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands	• Sequence analysis of the entire coding region
University of California, San Francisco, Molecular Diagnostics Laboratory - San Francisco, CA, USA	• Deletion/duplication analysis
University of Greifswald, Institute of Human Genetics - Greifswald, Germany	• Sequence analysis of the entire coding region • Linkage analysis • Deletion/duplication analysis
University of Pennsylvania School of Medicine, Genetic Diagnostic Laboratory - Philadelphia, PA, USA	• Sequence analysis of the entire coding region • Linkage analysis • Deletion/duplication 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.