Laboratory	Test Method	Prenatal	Carrier *
Aarhus University Hospital, Department of Molecular Medicine - Aarhus, Denmark	• Sequence analysis of select exons • Deletion/duplication analysis • Mutation scanning of select exons
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark	• Sequence analysis of the entire coding region
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia	• Sequence analysis of the entire coding region
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey	• Sequence analysis of the entire coding region
Center for Human Genetics, Inc - Cambridge, MA, USA	• Sequence analysis of the entire coding region • Deletion/duplication 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
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
diagenos - Osnabrueck, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of select exons • Targeted mutation analysis
GGA - Galil Genetic Analysis - Kazerin, Israel	• Sequence analysis of the entire coding region
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Sequence analysis of the entire coding region • Targeted mutation analysis
Hospital Italiano de Buenos Aires, ICBME - Unidad de Medicina Molecular y Genómica - Buenos Aires, Argentina	• Sequence analysis of the entire coding region • Mutation scanning of the entire coding region
Huntington Medical Research Institutes, Cancer Genetics Laboratory - Pasadena, CA, USA	• Sequence analysis of the entire coding region • Linkage analysis • Deletion/duplication analysis
HUSLAB, Laboratory of Genetics - Helsinki, Finland	• Sequence analysis of the entire coding region
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning of the entire coding region • Deletion/duplication analysis
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of the entire coding region • Targeted mutation analysis
InVitae Corporation - San Francisco, CA, USA	• Sequence analysis of the entire coding region
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden	• Sequence analysis of select exons • Linkage analysis • Mutation scanning of select exons
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA	• Sequence analysis of select exons • Deletion/duplication analysis • Mutation scanning of select exons
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland	• Sequence analysis of the entire coding region • Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia	• Sequence analysis of the entire coding region • Deletion/duplication analysis
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany	• Mutation scanning of the entire coding region • Linkage analysis • Deletion/duplication analysis
Mount Sinai Hospital, Advanced Molecular Diagnostics - Toronto, Canada	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Myriad Genetic Laboratories, Inc., Myriad Genetic Laboratories - Salt Lake City, UT, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Northwick Park and St. Mark's Hospitals, Kennedy-Galton Centre - NW Thames Regional Genetics Service - Harrow, Great Britain	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Praxis fuer Humangenetik Wien - Vienna, Austria	• Sequence analysis of the entire coding region • Deletion/duplication analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel	• Sequence analysis of the entire coding region • Targeted mutation analysis
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea	• Sequence analysis of the entire coding region
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Sequence analysis of the entire coding region • Linkage analysis • Deletion/duplication analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of the entire coding region • Deletion/duplication analysis
St James's University Hospital, Leeds Teaching Hospitals, Yorkshire Regional DNA Laboratory - Leeds, Great Britain	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland	• Sequence analysis of the entire coding region • Mutation scanning of the entire coding region • Deletion/duplication analysis
University of Bonn, Institute of Human Genetics - Bonn, Germany	• Sequence analysis of the entire coding region • Linkage analysis • Deletion/duplication analysis
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA	• Sequence analysis of the entire coding region
University of Pennsylvania School of Medicine, Genetic Diagnostic Laboratory - Philadelphia, PA, USA	• Sequence analysis of the entire coding region
University of Washington Medical Center, Laboratory Medicine-Genetics Laboratory - Seattle, WA, USA	• Sequence analysis of the entire coding region • 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.