Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
diagenos - Osnabrueck, Germany	• Sequence analysis 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 • Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
Genexpress Ltd, Molecular Genetics Laboratory - Bratislava, Slovakia	• Sequence analysis of the entire coding region • Targeted mutation analysis
GGA - Galil Genetic Analysis - Kazerin, Israel	• Sequence analysis of the entire coding region
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• 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
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
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
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
Praxis fuer Humangenetik Wien - Vienna, Austria	• Sequence analysis of the entire coding region
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar	• Sequence analysis of the entire coding region
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium	• Sequence analysis of the entire coding region
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada	• 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.