Several distinct syndromes, including Crouzon, Apert, severe Pfeiffer and Jackson-Weiss syndromes, have been discovered to be caused by different mutations within the Fibroblast Growth Factor Receptor, type 2 (FGFR2) gene on chromosome 10. These diseases represent the bulk of genetic conditions resulting in cranial dysmorphologies, which are a result of premature closure of the sutures between the bones of the skull. If not surgically corrected, the brain continues to grow within the small skull causing protruding eyeballs, an altered head shape, and possible brain damage. A variety of other symptoms may also be present in the different syndromes.   These syndromes may be either spontaneous, or inherited in an autosomal dominant manner. In the inherited form, the diseases are considered fully penetrant, however overlapping or mild secondary symptoms may make classification among the related syndromes difficult. This test is performed as part of the Craniosynostosis Syndromes testing which examines FGFR1, 2, & 3.

• To determine whether one of these syndromes is responsible for abnormalities in the skull or eyes.
• To establish whether the symptoms are spontaneous or inherited within a family.
• To evaluate the risk of having a child with one of these syndromes.
• To discriminate between syndromes with overlapping clinical symptoms in an affected individual.
• Individuals at risk who wish prenatal diagnosis.

• For ambiguous patients, this test is often included with testing for Saethre-Chotzen syndrome.

• PCR analysis and DNA sequencing of exons 7 and 9 (IIIa and IIIc) of the FGFR2 gene.

• Blood EDTA (purple top) tubes:  

            Newborn: minimum 1-2 mL          

            Child/Adult: prefer 2 tubes of 3-5 mL

• Prenatal testing: Please contact the laboratory for instructions.

TURNAROUND TIME:     15 working days

CPT CODES: