Disorders


 

FGFR3-Related Craniosynostosis


 

OMIM

GeneLocusProtein
FGFR34p16.3 

Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark• Targeted mutation analysis
 
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Sequence analysis of the entire coding region
 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia• 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
 
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
 
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA• Targeted mutation analysis
 
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
 
CGC Genetics - Porto, Portugal• Sequence analysis of the entire coding region
• 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
 
Children's University Hospital, Human Genetics - Berne, Switzerland• Sequence analysis of the entire coding region
 
Cologne University, Institute of Human Genetics - Cologne, Germany• Sequence analysis of the entire coding region
 
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of select exons
 
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA• Sequence analysis of the entire coding region
• Sequence analysis of select exons
• Deletion/duplication analysis
 
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey• Sequence analysis of select exons
 
Genetics Center, Molecular and Cytogenetic Diagnostic Laboratories - Orange, CA, USA• Sequence analysis of select exons
• Targeted mutation analysis
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA• Sequence analysis of select exons
 
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Sequence analysis of select exons
 
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada• Targeted mutation analysis
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Targeted mutation analysis
 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA• Sequence analysis of select exons
 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand• Sequence analysis of the entire coding region
 
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - New York, NY, USA• Sequence analysis of select exons
• Deletion/duplication analysis
 
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain• Sequence analysis of select exons
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Targeted mutation analysis
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA• Targeted mutation analysis
 
Universidad de Zaragoza, Facultad de Medicina, Laboratorio de Genética Clínica y Genómica Funcional - Zaragoza, Spain• Targeted mutation analysis
 
University Hospital Lausanne, DNA Diagnostic Laboratory - Service de Génétique Médicale - Lausanne, Switzerland• Sequence analysis of select exons
 
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.

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