Fibroblast Growth Factor Receptor Genes (FGFR)
Mutations within Fibroblast Growth Factor Receptor (FGFR)
genes have been associated with several common skeletal dysplasias
and a number of craniosynostosis syndromes.
FGFR analysis depends on the clinical diagnosis as listed below.
Consult with the laboratory director for more information regarding
FGFR 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: see list of
disorders below
|
Gene |
Syndrome |
CPT Codes |
|
FGFR1, FGFR2 |
Pfeiffer syndrome |
83890, 83898 (x2), 83904 (x4), 83912 |
|
FGFR2 |
Apert syndrome
Crouzon syndrome
Jackson-Weiss syndrome
Beare-Stevenson with cutis gyrata |
83890, 83898 (x2),
83904 (x4), 83912 |
|
FGFR3 |
Thanatophoric dysplasia type I |
83890, 83898 (x2), 83904 (x4), 83912 |
|
FGFR3 ***** |
Thanatophoric dysplasia type II
Achondroplasia
Hypochondroplasia
Non-syndromic craniosynostosis (NSC) |
83890, 83892, 83898, 83909, 83912 |
|
***** Note: These groupings are not panels. Each
condition is ordered and billed separately.***** |
|
