Disorders


 

Sotos Syndrome


Synonym(s): Cerebral Gigantism

 

GeneReviewOMIM

GeneLocusProtein
NSD15q35Histone-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.

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