Laboratory	Test Method	Prenatal	Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA	• Sequence analysis of select exons
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA	• Sequence analysis of select exons
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Sequence analysis of the entire coding region
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Sequence analysis of the entire coding region
bio.logis Center for Human Genetics - Frankfurt, Germany	• Sequence analysis of the entire coding region
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA	• Sequence analysis of the entire coding region
Center for Human Genetics, Inc - Cambridge, MA, USA	• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA	• Sequence analysis of the entire coding region
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region • Sequence analysis of select exons
diagenos - Osnabrueck, Germany	• Sequence analysis of the entire coding region
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Sequence analysis of the entire coding region • Sequence analysis of select exons
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
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of the entire coding region
GGA - Galil Genetic Analysis - Kazerin, Israel	• Sequence analysis of the entire coding region
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA	• 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
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Sequence analysis of the entire coding region
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of the entire coding region • Sequence analysis of select exons
InVitae Corporation - San Francisco, CA, USA	• Sequence analysis of the entire coding region
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
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland	• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia	• Sequence analysis of the entire coding region
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA	• Sequence analysis of the entire coding region
Praxis fuer Humangenetik Wien - Vienna, Austria	• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of select exons • Deletion/duplication analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of the entire coding region
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of select exons
Universidad de Zaragoza, Facultad de Medicina, Laboratorio de Genética Clínica y Genómica Funcional - Zaragoza, Spain	• Sequence analysis of the entire coding region
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA	• Sequence analysis of select exons
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, 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.