Laboratory	Test Method	Prenatal	Carrier *
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany	• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Flinders Medical Centre, Genetics and Molecular Pathology, SA Pathology - Adelaide, Australia	• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of the entire coding region
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark	• Sequence analysis of the entire coding region
Netherlands Institute for Neuroscience, Molecular Ophthalmogenetics Laboratory - Amsterdam, Netherlands	• Sequence analysis of the entire coding region
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA	• Sequence analysis of the entire coding region
University of Iowa, John and Marcia Carver Nonprofit Genetic Testing Laboratory - Iowa City, IA, 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.