Laboratory	Test Method	Prenatal	Carrier *
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia	• Targeted mutation analysis
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Sequence analysis of the entire coding region
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
CeGaT GmbH - Tuebingen, 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
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region • Deletion/duplication analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
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
Ghent University Hospital, DNA Laboratory - Ghent, Belgium	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, 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
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark	• Sequence analysis of the entire coding region • Targeted mutation analysis • Deletion/duplication analysis
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands	• Sequence analysis of the entire coding region
Medical Neurogenetics - Atlanta, GA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
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
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands	• Sequence analysis of the entire coding region
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar	• 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 • Deletion/duplication analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Transgenomic - New Haven, CT, USA	• Sequence analysis of the entire coding region
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, 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.