Apert Syndrome is generally a very distinctive and severe form of craniosynostosis, which is caused by a Pro252Arg mutation on the FGFR2 gene (chromosome 10). Apert syndrome not only features the premature closure of the sutures of the skull which can lead to mental retardation, bulging eyes and head dysmorphology, but there is generally severe hand and feet involvement.  The appendages have varying degrees of syndactyly ranging from the fusion of several fingers and toes to a flipper like appearance. The prognosis is very poor.  The severity of the mutation almost always is a result of a spontaneous mutation in the child. The mutation that causes this phenotype is located at a flexure point between the second and third receptor-loop structures of the extracellular end of the receptor. This is the analogous location of the mild Pfeiffer causing mutation on FGFR1 and the nonsyndromic mutation on FGFR3. This test is performed as part of the Craniosynostosis Syndromes testing which examines FGFR1, 2, & 3.

• To determine whether Apert syndrome is responsible for abnormalities in the skull, hands, feet, or eyes.
• To discriminate between syndromes with overlapping clinical symptoms in an affected individual.
• To evaluate the risk of having a child with Apert syndrome.
• Individuals at risk who wish prenatal diagnosis.

• PCR amplification and bidirectional sequencing of the region including the S252W and P253R mutations.  This assay will detect 99% of all the mutations causing Apert syndrome in the FGFR2 gene with an accuracy of 99%. 

• 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: