Disorders


 

Achondroplasia


 

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• Sequence analysis of select exons
• Targeted mutation analysis
  
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA• Sequence analysis of select exons
  
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
  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Targeted mutation analysis
  
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada• Targeted mutation analysis
  
bio.logis Center for Human Genetics - Frankfurt, Germany  
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Targeted mutation analysis
  
Burc Molecular Genetics Laboratory - Istanbul, Turkey• 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 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
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of select exons
  
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany  
Faculty of Medicine, Pontificia Universidad Católica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service - Santiago, Chile• Targeted mutation analysis
  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
  
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey• Sequence analysis of select exons
• Targeted mutation analysis
  
Genetics Center, Molecular and Cytogenetic Diagnostic Laboratories - Orange, CA, USA• Targeted mutation analysis
  
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia• 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
  
InterGenetics - Diagnostic Genetic Center, InterGenetics - Athens, Greece• Targeted mutation analysis
  
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA• Sequence analysis of select exons
• Targeted mutation analysis
  
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden• Sequence analysis of select exons
• Targeted mutation analysis
  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Targeted mutation analysis
  
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand  
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands  
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany• Targeted mutation analysis
  
Nucleo de Genetica Medica de Minas Gerais, GENE - Belo Horizonte, Brazil• Targeted mutation analysis
  
Ohio State University, Molecular Pathology Laboratory - Columbus, OH, USA• Sequence analysis of select exons
• Targeted mutation analysis
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of select exons
• Targeted mutation analysis
  
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA• Targeted mutation analysis
  
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea• Sequence analysis of select exons
  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Targeted mutation analysis
  
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel• Targeted mutation analysis
• Linkage analysis
  
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar• Targeted mutation analysis
  
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Targeted mutation analysis
  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Targeted mutation analysis
  
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA• Targeted mutation analysis
  
Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy• Targeted mutation analysis
  
Universidad de Zaragoza, Facultad de Medicina, Laboratorio de Genética Clínica y Genómica Funcional - Zaragoza, Spain• Targeted mutation analysis
  
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland• 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
• 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.

Loading...