Laboratory	Test Method	Prenatal	Carrier *
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia	• Targeted mutation analysis
CeGaT GmbH - Tuebingen, Germany	• Sequence analysis of the entire coding region
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
CGC Genetics - Porto, Portugal	• Sequence analysis of select exons
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland	• Sequence analysis of select exons
InVitae Corporation - San Francisco, CA, USA	• Sequence analysis of the entire coding region
IWK Health Centre, Molecular Diagnostic Laboratory - Halifax, Canada	• Targeted mutation analysis
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA	• 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
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of the entire coding region
St James's University Hospital, Leeds Teaching Hospitals, Yorkshire Regional DNA Laboratory - Leeds, Great Britain	• Sequence analysis of the entire coding region • Sequence analysis of select exons • Linkage analysis
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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.