Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Sequence analysis of the entire coding region
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany	• Sequence analysis of the entire coding region • Targeted mutation analysis • Linkage analysis • Deletion/duplication analysis
Centogene AG, Rare Disease Company - 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
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GGA - Galil Genetic Analysis - Kazerin, Israel	• Sequence analysis of the entire coding region
GSTS Pathology, DNA Laboratory - London, Great Britain	• Sequence analysis of the entire coding region
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada	• Sequence analysis of the entire coding region
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA	• Targeted mutation analysis
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
Medical Neurogenetics - Atlanta, GA, USA	• Sequence analysis of the entire coding region
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory (DNA Division) - New York, NY, USA	• Targeted mutation analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis • Deletion/duplication analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel	• 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 • Linkage analysis
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany	• Sequence analysis of the entire coding region • Targeted mutation analysis • Deletion/duplication analysis
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
University of Iowa Hospitals and Clinics, Department of Pathology - Iowa City, IA, USA	• Sequence analysis of the entire coding region • Targeted mutation 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.