Laboratory	Test Method	Prenatal	Carrier *
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA	• Mutation scanning of the entire coding region • Deletion/duplication analysis
Cologne University, Institute of Human Genetics - Cologne, 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
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden	• Sequence analysis of the entire coding region • Linkage analysis
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
University Hospitals of Geneva - Genetic Medicine, Genetic Oncology - DiagMol - Geneva, Switzerland	• Sequence analysis of select exons • 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.