A point mutation on the FGFR3 gene (Pro250Arg) has been found to mimic Crouzon, Apert, Pfeiffer or Jackson-Weiss syndromes.  The symptoms are extremely variable, but unilateral craniosynostosis is common. Therefore, patients are often misdiagnosed or not clearly diagnosed.  The condition may also be known as Muenke syndrome. Perhaps 75% of these cases are spontaneous; however, the remainder are inherited in an autosomal dominant manner. This test is performed as part of the Craniosynostosis Syndromes testing which examines FGFR1, 2, & 3.

• To determine whether NCS 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 nonsyndromic craniosynostosis.
• 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 amplification of the FGFR3 gene followed by mutation specific restriction enzyme digestion for the Pro250Arg mutation.

• 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: