Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• FISH-metaphase • Deletion/duplication analysis
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA	• Sequence analysis of the entire coding region
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Sequence analysis of the entire coding region • Linkage analysis
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
CGC Genetics - Porto, Portugal	• 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
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning 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
Connective Tissue Gene Tests - Allentown, PA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
diagenos - Osnabrueck, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region • FISH-metaphase • FISH-interphase • Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of the entire coding region • Sequence analysis of select exons • Deletion/duplication analysis
GGA - Galil Genetic Analysis - Kazerin, Israel	• Sequence analysis 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
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of the entire coding region • Deletion/duplication analysis • Mutation scanning of select exons
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
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA	• FISH-metaphase
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Praxis fuer Humangenetik Wien - Vienna, Austria	• Sequence analysis of the entire coding region • Deletion/duplication analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Deletion/duplication analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain	• Sequence analysis 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
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel	• Linkage analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• 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.