Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Sequence analysis of the entire coding region
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey	• Sequence analysis of the entire coding region
CeGaT GmbH - Tuebingen, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA	• Sequence analysis of the entire coding region • Linkage analysis • Deletion/duplication analysis
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA	• Sequence analysis of the entire coding region
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• 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
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of the entire coding region
Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy	• Sequence analysis of the entire coding region
University of Iowa, John and Marcia Carver Nonprofit Genetic Testing Laboratory - Iowa City, IA, USA	• Sequence analysis of the entire coding region
University of Zurich, Institute of Medical Molecular Genetics - Schwerzenbach, Switzerland	• 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.