Molecular Test Listing

Molecular Requisition

Pfeiffer syndrome has been characterized by two phenotypes. The more severe form with pronounced craniostenosis and large thumbs and toes has been discovered to be caused by different mutations within the Fibroblast Growth Factor Receptor, Type 2 (FGFR2) gene. However, a milder form of craniosynostosis with modestly larger thumbs and big toes has been localized to a Pro252Arg point mutation on the FGFR1 gene.  This is the analogous location of the Apert syndrome causing mutation on FGFR2 and the Nonsyndromic mutation on FGFR3. The symptoms are variable and, overlapping or mild secondary symptoms may make classification among related syndromes difficult.  Perhaps 50% of the milder form of Pfeiffer syndrome 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.

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• To determine whether Pfeiffer syndrome 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 Pfeiffer syndrome.
• 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 FGFR1 gene followed by mutation specific restriction enzyme digestion for the Pro252Arg 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:     3 weeks