Disorders

Spinal Muscular Atrophy (SMN1)

Synonym(s): SMA, SMN

Gene	Locus	Protein
SMN1	5q13.2	Survival motor neuron 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
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada	• Targeted mutation analysis
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA	• Targeted mutation analysis
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA	• Targeted mutation analysis
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Targeted mutation analysis
ATS GeneTech Private Limited, GeneTech - Hyderabad, India	• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Targeted mutation analysis
bio.logis Center for Human Genetics - Frankfurt, Germany	• Targeted mutation analysis
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA	• Targeted mutation analysis
Burc Molecular Genetics Laboratory - Istanbul, Turkey	• Targeted mutation analysis
CeGaT GmbH - Tuebingen, Germany	• 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
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany	• Targeted mutation analysis
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India	• Targeted mutation analysis
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India	• Targeted mutation analysis
CGC Genetics - Porto, Portugal	• Targeted mutation 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 University Hospital, Human Genetics - Berne, Switzerland	• Targeted mutation analysis
Cologne University, Institute of Human Genetics - Cologne, Germany	• Targeted mutation analysis • Linkage analysis
Columbia University, Molecular Neurogenetics Laboratory - New York, NY, USA	• Targeted mutation analysis
Cyprus Institute of Neurology and Genetics, Neurogenetics Department - Ayios Dhometios, Cyprus	• Targeted mutation analysis • Linkage analysis
Dayton Children's Medical Center, Molecular and Biochemical Genetics Laboratory - Dayton, OH, USA	• Targeted mutation analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Targeted mutation analysis
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Targeted mutation analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Targeted mutation analysis
GENDA - Ciudad autonoma de Buenos Aires, Argentina	• Targeted mutation analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey	• Targeted mutation analysis
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia	• Targeted mutation analysis
Genexpress Ltd, Molecular Genetics Laboratory - Bratislava, Slovakia	• Targeted mutation analysis
GGA - Galil Genetic Analysis - Kazerin, Israel	• Targeted mutation analysis
GSTS Pathology, DNA Laboratory - London, Great Britain	• Targeted mutation analysis • Linkage analysis
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Targeted mutation analysis
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada	• Targeted mutation analysis • Linkage analysis
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Targeted mutation 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
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden	• Targeted mutation analysis
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand	• Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia	• Targeted mutation analysis
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• Targeted mutation analysis
Ohio State University, Molecular Pathology Laboratory - Columbus, OH, USA	• Targeted mutation analysis
Praxis fuer Humangenetik Wien - Vienna, Austria	• Mutation scanning of the entire coding region • Targeted mutation analysis
Pro Genetic, Inc, University Children's Genetics Laboratory - Glendale, CA, USA	• Targeted mutation analysis • Linkage 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
Rabin Medical Center, Molecular Genetics - Petah Tikva, Israel	• Targeted mutation analysis
Rush University Medical Center, Genetics Laboratory - Department of Pathology - Chicago, IL, USA	• Targeted mutation 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
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea	• Targeted mutation analysis
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Targeted mutation analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Targeted mutation analysis • Linkage analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Targeted mutation analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany
Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy	• Targeted mutation analysis • Linkage analysis
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA	• Targeted mutation 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 Ostrava, DNA Diagnostics Laboratory - Ostrava, Czech Republic
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands	• Targeted mutation analysis
University of California, San Francisco, Molecular Diagnostics Laboratory - San Francisco, CA, USA	• Targeted mutation analysis
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA	• Targeted mutation analysis
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA	• Targeted mutation analysis
University of Pittsburgh Medical Center, Division of Molecular Diagnostics - Pittsburgh, PA, USA	• Targeted mutation analysis
University of Turku, Diagnostic DNA Laboratory - Turku, Finland	• 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.