Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
ATG-GenMed - Berlin, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• FISH-metaphase
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	• Deletion/duplication analysis
Brigham and Women's Hospital, Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory - Boston, MA, USA	• FISH-metaphase
CeGaT GmbH - Tuebingen, Germany	• Sequence analysis of the entire coding region
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Center for Human Genetics, Inc - Cambridge, MA, USA	• 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
CGC Genetics - Porto, Portugal	• Deletion/duplication analysis
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region • Deletion/duplication analysis
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA	• Sequence analysis of the entire coding region • Linkage analysis • FISH-interphase • Deletion/duplication analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
diagenos - Osnabrueck, Germany	• Mutation scanning of the entire coding region • Deletion/duplication analysis
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of the entire coding region • Deletion/duplication 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
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning 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
Institute of Predictive and Personalized Medicine of Cancer (IMPPC), Genetic Diagnostics for Hereditary Cancer Unit - Badalona, Spain	• Sequence analysis of the entire coding region • Linkage analysis • Deletion/duplication analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of the entire coding region • Linkage analysis • Deletion/duplication analysis
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 • 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 • FISH-interphase
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Praxis fuer Humangenetik Wien - Vienna, Austria	• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Ruhr University, Human Genetics - Bochum, Germany	• 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
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
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Linkage analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• 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
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA	• Sequence analysis of the entire coding region • FISH-metaphase • Deletion/duplication 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.