Laboratory	Test Method	Prenatal	Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA	• Sequence analysis of select exons
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, 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
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA	• 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
InVitae Corporation - San Francisco, CA, USA	• Sequence analysis of the entire coding region
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain	• Sequence analysis of select exons
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA	• 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
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel	• Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of the entire coding region
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.