Fibroblast Growth Factor Receptor 2 (FGFR2)-Related
Craniosysnostosis
Mutations within the Fibroblast Growth
Factor Receptor 2 (FGFR2) gene have been associated with a number of
craniosynostosis syndromes including Pfeiffer syndrome, Apert syndrome,
Crouzon syndrome, Jackson-Weiss syndrome and Beare-Stevenson syndrome with
cutis gyrata. Testing for FGFR2 mutations within exons IIIa and IIIc is
available through the Molecular Diagnostic Laboratory of the Greenwood
Genetic Center.
While most cases of Pfeiffer syndrome are caused
by an FGFR2 mutation, approximately 5% of those with Pfeiffer syndrome will have
a specific mutation (p.P252R) within the FGFR1 gene. If Pfeiffer syndrome is the
suspected clinical diagnosis, FGFR1 testing can be performed if the FGFR2 test
shows no mutation. Be sure to mark Pfeiffer syndrome on the requisition form if
you want both tests to be performed.
Consult with the laboratory director for more
information regarding FGFR2 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.
CPT Codes:
83890, 83898 (x2), 83904 (x4), 83912
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