Disorders

Angelman Syndrome

Gene	Locus	Protein
UBE3A	15q11.2	Ubiquitin-protein ligase E3A

Laboratory	Test Method	Prenatal	Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands	• Uniparental disomy study (UPD)
Akron Children's Hospital, Cytogenetics Laboratory - Akron, OH, USA	• FISH-metaphase
Akron Children's Hospital, Molecular Diagnostic Laboratory - Akron, OH, USA
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada	• Uniparental disomy study (UPD)
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA	• Uniparental disomy study (UPD)
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA	• FISH-metaphase
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
BayCare Laboratories, LLC, BayCare Cytogenetics Laboratory - Tampa, FL, USA	• FISH-metaphase
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• FISH-metaphase
bio.logis Center for Human Genetics - Frankfurt, Germany	• Uniparental disomy study (UPD)
BioAnalytica-GenoType S.A., Molecular Cytogenetic Research and Applications Lab - Athens, Greece	• FISH-metaphase
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey	• FISH-metaphase
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA
Brigham and Women's Hospital, Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory - Boston, MA, USA	• FISH-metaphase
CeGaT GmbH - Tuebingen, Germany
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA	• FISH-metaphase
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA	• Uniparental disomy study (UPD) • FISH-metaphase
Centogene AG, Rare Disease Company - Rostock, Germany
Centre Hospitalier de Versailles, Batiment EFS, Unit de Gntique Constitutionnelle - Le Chesnay, France
CGC Genetics - Porto, Portugal	• FISH-metaphase • FISH-interphase
CGC Genetics USA, Cytogenetics and Molecular Diagnostics Lab - Newark, NJ, USA	• FISH-metaphase • FISH-interphase
Children's Hospital and Research Center Oakland, Molecular Genetics - Oakland, CA, USA
Children's Hospital of Eastern Ontario, Molecular Genetics Diagnostic Laboratory - Ottawa, Canada	• Uniparental disomy study (UPD)
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA
Children's Mercy Hospital and Clinics, Molecular Genetics Laboratory - Kansas City, MO, USA
Children's University Hospital, Human Genetics - Berne, Switzerland
Cincinnati Children's Hospital Medical Center, Cytogenetics Laboratory - Cincinnati, OH, USA	• FISH-metaphase
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
CytoGenX - Stony Brook, NY, USA	• FISH-metaphase
Dayton Children's Medical Center, Molecular and Biochemical Genetics Laboratory - Dayton, OH, USA
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA
Diagnostic Services of Manitoba, Health Sciences Centre site, Molecular Diagnostic Laboratory - Winnipeg, Canada	• Uniparental disomy study (UPD)
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Uniparental disomy study (UPD)
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA
Emory University School of Medicine, Emory Molecular Cytogenetics Laboratory - Atlanta, GA, USA	• FISH-metaphase • FISH-interphase
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA	• FISH-metaphase • FISH-interphase
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Uniparental disomy study (UPD)
Genetics Associates, Inc. - Nashville, TN, USA	• FISH-metaphase
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia	• FISH-metaphase • FISH-interphase
GGA - Galil Genetic Analysis - Kazerin, Israel
Greenwood Genetic Center, Clinical Cytogenetics Laboratory - Greenwood, SC, USA	• FISH-metaphase • FISH-interphase
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA	• Uniparental disomy study (UPD)
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Mutation scanning of select exons
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada	• Uniparental disomy study (UPD)
Indiana University Medical Center, School of Medicine, Indiana University Molecular Genetics Diagnostic Laboratory - Indianapolis, IN, USA
Indiana University School of Medicine, Cytogenetics Laboratory - Indianapolis, IN, USA	• FISH-metaphase • FISH-interphase
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Linkage analysis • Uniparental disomy study (UPD)
INTA University of Chile, Molecular Cytogenetic Laboratory - Santiago, Chile	• Sequence analysis of select exons • Uniparental disomy study (UPD) • FISH-metaphase
Integrated Genetics, Cytogenetics and Biochemistry Laboratory - Santa Fe, NM, USA	• FISH-metaphase
Integrated Genetics, Molecular Cytogenetics Laboratory - Monrovia, CA, USA	• FISH-metaphase
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden	• Uniparental disomy study (UPD) • FISH-metaphase • FISH-interphase
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
LabCorp, Clinical Cytogenetics Laboratory - Research Triangle Park, NC, USA	• Uniparental disomy study (UPD) • FISH-metaphase
LabCorp, Molecular Biology - Research Triangle Park, NC, USA
LabCorp/Dynacare Laboratories - Seattle, Molecular Cytogenetics - Seattle, WA, USA	• FISH-metaphase • FISH-interphase
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand	• Uniparental disomy study (UPD)
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands	• Uniparental disomy study (UPD)
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain	• Sequence analysis of select exons
Marquette General Health System, Cytogenetics and Molecular Pathology Laboratory - Marquette, MI, USA	• FISH-metaphase • FISH-interphase
Mayo Clinic - Minnesota, Cytogenetics Laboratory - Rochester, MN, USA	• FISH-metaphase • FISH-interphase
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA	• Uniparental disomy study (UPD)
McGill University Health Centre, Molecular Genetics Laboratory - Montreal, Canada
Medgene, MedGene - Bratislava, Slovakia
Medical Neurogenetics - Atlanta, GA, USA
Mercy St. Vincent Medical Center, Cytogenetics and Molecular Genetics Laboratory - Toledo, OH, USA	• FISH-metaphase
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• Uniparental disomy study (UPD) • FISH-metaphase
Michigan State University, Clinical Genetics Laboratory - East Lansing, MI, USA	• FISH-metaphase • FISH-interphase
Mission Hospital, Fullerton Genetics Center - Asheville, NC, USA
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - Cytogenetics and Cytogenomics Lab - New York, NY, USA	• FISH-metaphase • FISH-interphase
Nationwide Children's Hospital, ChildLab Cytogenetics Laboratory - Columbus, OH, USA	• FISH-metaphase
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA	• Uniparental disomy study (UPD) • FISH-metaphase
New Jersey Medical School, Institute of Genomic Medicine - Newark, NJ, USA	• FISH-metaphase
North York General Hospital, Molecular Genetics Laboratory - Toronto, Canada	• Uniparental disomy study (UPD)
Nucleo de Genetica Medica de Minas Gerais, GENE - Belo Horizonte, Brazil	• Uniparental disomy study (UPD)
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
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
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Providence Sacred Heart Medical Center and Children's Hospital, Department of Laboratory Medicine/Molecular Diagnostic Division - Spokane, WA, USA
Quest Diagnostics Nichols Institute - California, Cytogenetics Laboratory - San Juan Capistrano, CA, USA	• FISH-metaphase
Quest Diagnostics Nichols Institute - Virginia, Cytogenetics Laboratory - Chantilly, VA, USA	• FISH-metaphase
Quest Diagnostics Nichols Institute - Virginia, Molecular Genetics Laboratory - Chantilly, VA, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Rush University Medical Center, Genetics Laboratory - Department of Pathology - Chicago, IL, USA	• Uniparental disomy study (UPD) • FISH-metaphase
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea	• FISH-metaphase
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA
Seattle Children's Hospital, Cytogenetics - Seattle, WA, USA	• FISH-metaphase
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar
Shodair Children's Hospital, Genetics Laboratory - Helena, MT, USA	• Uniparental disomy study (UPD) • FISH-metaphase
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• FISH-metaphase • FISH-interphase
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Uniparental disomy study (UPD) • FISH-metaphase • FISH-interphase
SUNY Upstate Medical University, Cytogenetics Laboratory - Syracuse, NY, USA	• FISH-metaphase
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• Uniparental disomy study (UPD)
Transgenomic, Transgenomic - Omaha - Omaha, NE, USA	• Mutation scanning of the entire coding region
Tulane University School of Medicine, Hayward Genetics Center Cytogenetics Lab - New Orleans, LA, USA	• Uniparental disomy study (UPD) • FISH-metaphase
Tulane University School of Medicine, Hayward Genetics Center Molecular Diagnostics Laboratory - New Orleans, LA, USA	• Uniparental disomy study (UPD) • FISH-metaphase
UMass Memorial Medical Center, Cytogenetics Laboratory - Worcester, MA, USA	• FISH-metaphase
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA	• FISH-metaphase
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland	• Uniparental disomy study (UPD)
University Hospital Lausanne, DNA Diagnostic Laboratory - Service de Génétique Médicale - Lausanne, Switzerland
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium	• Uniparental disomy study (UPD) • FISH-metaphase
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA	• Uniparental disomy study (UPD) • FISH-metaphase
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada	• Uniparental disomy study (UPD)
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA
University of California, San Francisco, Molecular Diagnostics Laboratory - San Francisco, CA, USA
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA	• Uniparental disomy study (UPD)
University of Colorado Anschutz Medical Campus, Colorado Genetics Laboratory - Denver, CO, USA	• FISH-metaphase • FISH-interphase
University of Connecticut Health Center, Human Genetics Laboratory - Farmington, CT, USA	• FISH-metaphase • FISH-interphase
University of Iowa Hospitals and Clinics, Department of Pathology - Iowa City, IA, USA
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA	• Uniparental disomy study (UPD) • FISH-metaphase • FISH-interphase
University of North Carolina Hospitals, Molecular Genetics - Chapel Hill, NC, USA
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA	• Uniparental disomy study (UPD) • FISH-metaphase • FISH-interphase
University of Turku, Diagnostic DNA Laboratory - Turku, Finland	• Uniparental disomy study (UPD)
University of Washington Medical Center, Cytogenetics Laboratory - Seattle, WA, USA	• FISH-metaphase
University of Wisconsin - Madison / WSLH, UW Cytogenetic Services - Madison, WI, USA	• FISH-metaphase • FISH-interphase
Washington University School of Medicine - Department of Pathology and Immunology, Clinical Genomics Laboratory - Saint Louis, MO, USA	• FISH-metaphase
Washington University School of Medicine, Molecular Diagnostic Laboratory - St. Louis, MO, USA
Yale University School of Medicine, DNA Diagnostics Laboratory - New Haven, CT, 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.