Laboratory	Test Method	Prenatal	Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA	• Sequence analysis of the entire coding region • Sequence analysis of select exons
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia	• Targeted mutation analysis
bio.logis Center for Human Genetics - Frankfurt, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA	• Sequence analysis of the entire coding region
CeGaT GmbH - Tuebingen, Germany	• Sequence analysis of the entire coding region
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA	• Sequence analysis of the entire coding region
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Sequence analysis of the entire coding region
Center for Human Genetics, Inc - Cambridge, MA, USA	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Children's Hospital and Research Center Oakland, Molecular Genetics - Oakland, CA, USA	• Sequence analysis of the entire coding region
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA	• Sequence analysis of the entire coding region
Cliniques universitaires Saint Luc, Center for Human Genetics - Brussels, Belgium	• Sequence analysis of the entire coding region
Cologne University, Institute of Human Genetics - Cologne, Germany	• Sequence analysis of the entire coding region
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Sequence analysis of the entire coding region • Sequence analysis of select exons • Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Mutation scanning of the entire coding region
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA	• Sequence analysis of the entire coding region
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Sequence analysis of the entire coding region • Mutation scanning of the entire coding region
Medgene, MedGene - Bratislava, Slovakia	• Sequence analysis of the entire coding region
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA	• 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
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• 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
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea	• Sequence analysis of the entire coding region
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA	• 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
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA	• 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 California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis

^* 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.