Disorders


 

FMR1-Related Disorders


 

GeneReviewOMIM

GeneLocusProtein
FMR1Xq27.3Fragile X mental retardation 1 protein

Laboratory Test Method Prenatal Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany• Targeted mutation analysis
  
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark• Targeted mutation analysis
• Methylation analysis
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands• Targeted mutation analysis
• Methylation analysis
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain• Targeted mutation analysis
Akron Children's Hospital, Molecular Diagnostic Laboratory - Akron, OH, USA• Targeted mutation analysis
• Methylation analysis
 
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Targeted mutation analysis
• Methylation analysis
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA• Targeted mutation analysis
 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Methylation analysis
• Deletion/duplication analysis
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Targeted mutation analysis
• Methylation analysis
Asuragen, Asuragen Clinical Laboratory - Austin, TX, USA• Targeted mutation analysis
• Methylation analysis
 
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Targeted mutation analysis
• Methylation analysis
 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada• Targeted mutation analysis
• Linkage analysis
bio.logis Center for Human Genetics - Frankfurt, Germany• Targeted mutation analysis
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey• Targeted mutation analysis
• Methylation analysis
 
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Targeted mutation analysis
• Methylation analysis
 
Burc Molecular Genetics Laboratory - Istanbul, Turkey• Targeted mutation analysis
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA• Targeted mutation analysis
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Targeted mutation analysis
• Methylation analysis
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Targeted mutation analysis
Center for Human Genetics, Inc - Cambridge, MA, USA• Targeted mutation analysis
• Methylation analysis
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India• Targeted mutation analysis
• Methylation analysis
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India• Targeted mutation analysis
 
Centre Hospitalier de Versailles, Batiment EFS, Unit de Gntique Constitutionnelle - Le Chesnay, France• Targeted mutation analysis
 
CGC Genetics - Porto, Portugal• Targeted mutation analysis
• Methylation analysis
Children's Hospital and Research Center Oakland, Molecular Genetics - Oakland, CA, USA• Targeted mutation analysis
 
Children's Hospital of Eastern Ontario, Molecular Genetics Diagnostic Laboratory - Ottawa, Canada• Targeted mutation analysis
 
Children's Mercy Hospital and Clinics, Molecular Genetics Laboratory - Kansas City, MO, USA• Targeted mutation analysis
 
Children's National Medical Center, Biochemical Genetics and Metabolism Laboratory - Washington, DC, USA• Targeted mutation analysis
• Methylation analysis
 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA• Targeted mutation analysis
• Methylation analysis
 
Dayton Children's Medical Center, Molecular and Biochemical Genetics Laboratory - Dayton, OH, USA• Targeted mutation analysis
• Methylation analysis
 
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA• Targeted mutation analysis
• Methylation analysis
• Deletion/duplication analysis
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA• Targeted mutation analysis
 
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA• Targeted mutation analysis
• Methylation analysis
Diagnostic Services of Manitoba, Health Sciences Centre site, Molecular Diagnostic Laboratory - Winnipeg, Canada• Targeted mutation analysis
• Linkage analysis
• Methylation analysis
 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Methylation analysis
• Deletion/duplication analysis
 
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA• Targeted mutation analysis
• Methylation analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Methylation analysis
• Deletion/duplication analysis
Faculty of Medicine, Pontificia Universidad Católica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service - Santiago, Chile• Targeted mutation analysis
• Methylation analysis
 
GENDA - Ciudad autonoma de Buenos Aires, Argentina• Targeted mutation analysis
• Methylation analysis
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
 
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey• Targeted mutation analysis
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
• Targeted mutation analysis
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA• Targeted mutation analysis
GSTS Pathology, DNA Laboratory - London, Great Britain• Targeted mutation analysis
Hartford Hospital-Hartford-CT-USA, Clinical Lab Partners/Molecular Genetics and Cytogenetics - Newington, CT, USA• Targeted mutation analysis
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Targeted mutation analysis
• Methylation analysis
Hopital Saint-Francois d'Assise du CHUQ, Laboratoire de Diagnostic Moleculaire - Quebec City, Canada• Targeted mutation analysis
• Methylation analysis
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Targeted mutation analysis
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada• Targeted mutation analysis
• Methylation analysis
 
Indiana University Medical Center, School of Medicine, Indiana University Molecular Genetics Diagnostic Laboratory - Indianapolis, IN, USA• Targeted mutation analysis
• Methylation analysis
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain• Targeted mutation analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Targeted mutation analysis
• Linkage analysis
• Methylation analysis
INTA University of Chile, Molecular Cytogenetic Laboratory - Santiago, Chile• Targeted mutation analysis
• Methylation analysis
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA• Targeted mutation analysis
IWK Health Centre, Molecular Diagnostic Laboratory - Halifax, Canada• Targeted mutation analysis
 
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden• Targeted mutation analysis
• Linkage analysis
• Methylation analysis
Kingston General Hospital, Molecular Diagnostic Laboratory - Kingston, Canada• Targeted mutation analysis
LabCorp, Molecular Biology - Research Triangle Park, NC, USA• Targeted mutation analysis
• Methylation analysis
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand• Targeted mutation analysis
• Methylation analysis
 
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands• Targeted mutation analysis
• Methylation analysis
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA• Targeted mutation analysis
• Methylation analysis
Medgene, MedGene - Bratislava, Slovakia• Targeted mutation analysis
• Methylation analysis
 
Mercy St. Vincent Medical Center, Cytogenetics and Molecular Genetics Laboratory - Toledo, OH, USA• Targeted mutation analysis
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Targeted mutation analysis
• Linkage analysis
• Methylation analysis
Michigan State University, Clinical Genetics Laboratory - East Lansing, MI, USA• Targeted mutation analysis
 
Mission Hospital, Fullerton Genetics Center - Asheville, NC, USA• Targeted mutation analysis
• Methylation analysis
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory (DNA Division) - New York, NY, USA• Targeted mutation analysis
• Methylation analysis
National University Hospital, Molecular Diagnosis Centre - Department of Laboratory Medicine - Singapore, Singapore• Targeted mutation analysis
Nebraska Medical Center, Molecular Diagnostic Laboratory - Omaha, NE, USA• Targeted mutation analysis
• Methylation analysis
New Jersey Medical School, Institute of Genomic Medicine - Newark, NJ, USA• Targeted mutation analysis
 
New York State Institute for Basic Research in Developmental Disabilities, Fragile X Laboratory/IBR Specialty Clinical Laboratories - Staten Island, NY, USA• Targeted mutation analysis
• Methylation analysis
Northwick Park and St. Mark's Hospitals, Kennedy-Galton Centre - NW Thames Regional Genetics Service - Harrow, Great Britain• Targeted mutation analysis
• Methylation analysis
Nucleo de Genetica Medica de Minas Gerais, GENE - Belo Horizonte, Brazil• Methylation analysis
 
Ohio State University, Molecular Pathology Laboratory - Columbus, OH, USA• Targeted mutation analysis
• Methylation analysis
 
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA• Targeted mutation analysis
• Methylation analysis
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Targeted mutation analysis
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Providence Sacred Heart Medical Center and Children's Hospital, Department of Laboratory Medicine/Molecular Diagnostic Division - Spokane, WA, USA• Targeted mutation analysis
 
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA• Targeted mutation analysis
• Methylation analysis
Rabin Medical Center, Molecular Genetics - Petah Tikva, Israel• Targeted mutation analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Targeted mutation analysis
Ruhr University, Human Genetics - Bochum, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
Rush University Medical Center, Genetics Laboratory - Department of Pathology - Chicago, IL, USA• Targeted mutation analysis
• Methylation analysis
 
Saint Barnabas Medical Center, Diagnostic Molecular Pathology - Livingston, NJ, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Methylation analysis
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea• Targeted mutation analysis
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA• Targeted mutation analysis
• Methylation analysis
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Targeted mutation analysis
 
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel• Linkage analysis
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar• Targeted mutation analysis
• Methylation analysis
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• Targeted mutation analysis
Shodair Children's Hospital, Genetics Laboratory - Helena, MT, USA• Targeted mutation analysis
• Methylation analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Targeted mutation analysis
• Methylation analysis
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Targeted mutation analysis
• Methylation analysis
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA• Targeted mutation analysis
• Methylation analysis
Stony Brook University Medical Center, Molecular Genetics Laboratory - Stony Brook, NY, USA• Targeted mutation analysis
• Methylation analysis
 
SUNY Upstate Medical University, Molecular Diagnostic Laboratory - Syracuse, NY, USA• Targeted mutation analysis
• Methylation analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Targeted mutation analysis
Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy• Targeted mutation analysis
Tulane University School of Medicine, Hayward Genetics Center Molecular Diagnostics Laboratory - New Orleans, LA, USA• Targeted mutation analysis
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA• Targeted mutation analysis
• Methylation analysis
Universidad de Zaragoza, Facultad de Medicina, Laboratorio de Genética Clínica y Genómica Funcional - Zaragoza, Spain• Protein analysis
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland• Targeted mutation analysis
• Linkage analysis
• Methylation analysis
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic• Targeted mutation analysis
 
University Hospital Lausanne, DNA Diagnostic Laboratory - Service de Génétique Médicale - Lausanne, Switzerland• Targeted mutation analysis
 
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium• Targeted mutation analysis
 
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany• Targeted mutation analysis
 
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA• Targeted mutation analysis
 
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada• Targeted mutation analysis
University of Bonn, Institute of Human Genetics - Bonn, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
 
University of California Los Angeles, UCLA Diagnostic Molecular Pathology Laboratory - Los Angeles, CA, USA• Targeted mutation analysis
University of California, San Francisco, Molecular Diagnostics Laboratory - San Francisco, CA, USA• Targeted mutation analysis
• Methylation analysis
University of Iowa Hospitals and Clinics, Department of Pathology - Iowa City, IA, USA• Targeted mutation analysis
• Methylation analysis
 
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA• Targeted mutation analysis
• Methylation analysis
 
University of Minnesota, University of Minnesota Physicians Outreach Laboratory - Minneapolis, MN, USA• Targeted mutation analysis
University of North Carolina Hospitals, Molecular Genetics - Chapel Hill, NC, USA• Targeted mutation analysis
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA• Targeted mutation analysis
• Methylation analysis
 
University of Pittsburgh Medical Center, Division of Molecular Diagnostics - Pittsburgh, PA, USA• Targeted mutation analysis
• Methylation analysis
 
University of Virginia Health System, Molecular Diagnostics Laboratory - Charlottesville, VA, USA• Targeted mutation analysis
 
University of Washington Medical Center, Laboratory Medicine-Genetics Laboratory - Seattle, WA, USA• Targeted mutation analysis
• Methylation analysis
University of Wisconsin - Madison / WSLH, UW Cytogenetic Services - Madison, WI, USA• Targeted mutation analysis
• Methylation analysis
 
Vanderbilt University Medical Center, Molecular Diagnostics Laboratory - Nashville, TN, USA• Targeted mutation analysis
• Methylation analysis
Washington University School of Medicine, Molecular Diagnostic Laboratory - St. Louis, MO, USA• Targeted mutation analysis
• Methylation analysis
 
Yale University School of Medicine, DNA Diagnostics Laboratory - New Haven, CT, USA• 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.

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