Disorders

Achondroplasia

Gene	Locus	Protein
FGFR3	4p16.3

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.