Disorders


 

FGFR1-Related Craniosynostosis


Synonym(s): Craniosynostosis Syndromes, FGFR1-Related

 

OMIM

GeneLocusProtein
FGFR18p12Fibroblast growth factor receptor 1

Laboratory Test Method Prenatal Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Targeted mutation analysis
  
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of select exons
  
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Targeted mutation analysis
  
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA• Targeted mutation analysis
  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany  
CGC Genetics - Porto, Portugal• Targeted mutation analysis
  
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA• Targeted mutation analysis
  
Children's Mercy Hospital and Clinics, Molecular Genetics Laboratory - Kansas City, MO, USA• Targeted mutation analysis
  
Cologne University, Institute of Human Genetics - Cologne, Germany  
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of select exons
  
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Mutation scanning of select exons
  
Genetics Center, Molecular and Cytogenetic Diagnostic Laboratories - Orange, CA, USA• Targeted mutation analysis
  
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Sequence analysis of select exons
  
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA• Sequence analysis of select exons
  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Targeted mutation analysis
  
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands• Sequence analysis of select exons
  
Medgene, MedGene - Bratislava, Slovakia  
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - New York, NY, USA• Sequence analysis of select exons
  
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain• Sequence analysis of select exons
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain  
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA• Sequence analysis of select exons
  
University Hospital Lausanne, DNA Diagnostic Laboratory - Service de Génétique Médicale - Lausanne, Switzerland• Sequence analysis of select exons
  

* 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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