Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Protein 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
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel	• Sequence analysis of the entire coding region • Targeted mutation 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 the entire coding region
GGA - Galil Genetic Analysis - Kazerin, Israel	• Sequence analysis of the entire coding region
HIBM Research Group - Reseda, CA, USA	• Sequence analysis of the entire coding region
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia	• Sequence analysis of the entire coding region
Medical Neurogenetics - Atlanta, GA, USA	• 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 the entire coding region • Deletion/duplication analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel	• 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
University of Iowa Hospitals and Clinics, Department of Pathology - Iowa City, IA, USA	• Sequence analysis of the entire coding region
University of Utah, Utah Genome Center - Salt Lake City, UT, 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.