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 • Deletion/duplication analysis
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region
diagenos - Osnabrueck, Germany	• Sequence analysis of the entire coding region
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of the entire coding region
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 • Deletion/duplication analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of the entire coding region • Deletion/duplication analysis
InVitae Corporation - San Francisco, CA, USA	• Sequence analysis of the entire coding region
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Medgene, MedGene - Bratislava, Slovakia	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Praxis fuer Humangenetik Wien - Vienna, Austria	• Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Ruhr University, Human Genetics - Bochum, Germany	• Mutation scanning of the entire coding region • Deletion/duplication analysis
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Sequence analysis of the entire coding region
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany	• Sequence analysis of the entire coding region
University of Goettingen, Institute of Human Genetics - Goettingen, Germany	• 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.