Disorders

Marfan Syndrome

Gene	Locus	Protein
FBN1	15q21.1	Fibrillin-1

Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Baylor College of Medicine, John Welsh Cardiovascular Diagnostic Laboratory - Houston, TX, USA
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada
bio.logis Center for Human Genetics - Frankfurt, Germany
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Children's Hospital Westmead, Department of Molecular Genetics - Westmead, Australia
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA
Connective Tissue Gene Tests - Allentown, PA, USA
Correlagen Diagnostics, Inc. - Westborough, MA, USA
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany	• Mutation scanning of the entire coding region
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Sequence analysis of select exons
Health in Code S.L. - A Coruña, Spain
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning of the entire coding region
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Mayo Clinic - Minnesota, Cardiovascular Laboratory Medicine Genetics - Rochester, MN, USA
Medgene, MedGene - Bratislava, Slovakia
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Mission Hospital, Fullerton Genetics Center - Asheville, NC, USA
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea
Secugen SL - Madrid, Spain
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel	• Linkage analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
St George's University of London, SW Thames Molecular Genetics Diagnostic Laboratory - London, Great Britain
St James's University Hospital, Leeds Teaching Hospitals, Yorkshire Regional DNA Laboratory - Leeds, Great Britain
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany
Tulane University Health Sciences Center, Matrix DNA Diagnostics - New Orleans, LA, USA
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA

^* 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.