| Description: |
FGFR2 CRANIOSYNOSTOSIS SYNDROMES (INCLUDES APERT, CROUZON, PFEIFFER, JACKSON-WEISS, BEARE STEVENSON). Craniosynostosis can be diagnosed at the molecular level by detection of disease-causing mutations in the FGFR2 gene. Because the vast majority of mutations identified in FGFR2 to date are located in exons 7 and 9, diagnostic testing is performed on these two exons. The craniosynostosis sequencing assay includes isolation of DNA, gene amplification via the polymerase chain reaction (PCR), and direct DNA sequencing with two individual sequencing primers per exon that cover FGFR2 exons 7 and 9 in both the forward and reverse direction. |
