Disorders

Sotos Syndrome

Synonym(s): Cerebral Gigantism

Gene	Locus	Protein
NSD1	5q35	Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• FISH-metaphase • FISH-interphase
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
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany	• Mutation scanning of the entire coding region
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA	• FISH-metaphase • FISH-interphase
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of select exons
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
LabCorp, Clinical Cytogenetics Laboratory - Research Triangle Park, NC, USA	• FISH-metaphase
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands
Medgene, MedGene - Bratislava, Slovakia
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Michigan State University, Clinical Genetics Laboratory - East Lansing, MI, USA	• FISH-metaphase • FISH-interphase
Novogenia - Mondsee, Austria
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
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
St George's University of London, SW Thames Molecular Genetics Diagnostic Laboratory - London, Great Britain
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA	• FISH-metaphase
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
University of Colorado Anschutz Medical Campus, Colorado Genetics Laboratory - Denver, CO, USA	• FISH-metaphase • FISH-interphase
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA	• FISH-metaphase • FISH-interphase
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA	• FISH-metaphase • FISH-interphase
University of Turku, Diagnostic DNA Laboratory - Turku, Finland

^* 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.