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Fibroblast Growth Factor Receptor 3 (FGFR3)-Related Skeletal Dysplasias

Lab studies request form | CPT Codes/Price List (PDF)

Mutations within the Fibroblast Growth Factor Receptor 3 (FGFR3) gene have been associated with a number of skeletal dysplasias including Thanatophoric dysplasia Types I and II, achondroplasia, hypochondroplasia, as well as non-syndromic craniosynostosis (NSC).  Testing for FGFR3 mutations is available through the Molecular Diagnostic Laboratory of the Greenwood Genetic Center.

FGFR3 testing is not offered as a panel. You must specify which condition is clinically suspected. Testing for each condition must be ordered individually and will be billed separately. If you request more than one test, please specify the order in which they should be run or if they should be run simultaneously.

Consult with the laboratory director for more information regarding FGFR3 analysis.

Specimen requirements: 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. If necessary, ACD solution A Vacutainer tubes (yellow top) may be submitted. Please contact the laboratory for more information.

Transport: Please contact the Molecular Diagnostic Laboratory Coordinator (1-800-473-9411) for shipping information. The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Analysis Standards: Analysis will be complete within 2 weeks of sample receipt. The lab director assesses the quality and interpretation of results. Technical staff members independently assess the quality and interpretation of the test. The Greenwood Genetic Center Molecular Diagnostic Laboratory is CLIA certified and actively participates in CAP proficiency surveys.

Reporting of results: Test results with interpretation will be mailed and/or faxed following completion of the test. Verbal reports will be telephoned to the person(s) requesting the test when an abnormal test result occurs.