Disorders


 

Thanatophoric Dysplasia


 

GeneReviewOMIM

GeneLocusProtein
FGFR34p16.3 

Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark• Sequence analysis of select exons
  
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Targeted mutation analysis
  
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Targeted mutation analysis
  
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia• Targeted mutation analysis
  
ATS GeneTech Private Limited, GeneTech - Hyderabad, India• Targeted mutation analysis
  
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada• Sequence analysis of select exons
• Targeted mutation analysis
  
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of select exons
  
CeGaT GmbH - Tuebingen, Germany  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of select exons
  
CGC Genetics - Porto, Portugal• Targeted mutation analysis
  
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
  
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• Sequence analysis of select exons
  
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany• Sequence analysis of select exons
  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
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
  
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA• Sequence analysis of select exons
  
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Targeted mutation analysis
  
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Sequence analysis of select exons
  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Targeted mutation analysis
  
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA• Sequence analysis of select exons
  
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden• Sequence analysis of select exons
  
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands  
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland• Targeted mutation analysis
  
Medgene, MedGene - Bratislava, Slovakia  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of select exons
  
Sistemas Genomicos, Medical Genetics Unit - Paterna, 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• 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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