Laboratory	Test Method	Prenatal	Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany	• Sequence analysis of the entire coding region • Linkage analysis
Center for Human Genetics, Bioscientia GmbH - Ingelheim, 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	• Targeted mutation analysis
diagenos - Osnabrueck, Germany	• Sequence analysis of the entire coding region
GGA - Galil Genetic Analysis - Kazerin, Israel	• Sequence analysis of the entire coding region
InVitae Corporation - San Francisco, 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
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
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
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• 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.