CMH Lab Section
The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg mutation in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.
1-3 mL in EDTA lavender
Turn Around Time
PCR/RFLP to detect the P252R mutation in FGFR1; Sequencing of exons IIIa and IIIc of the FGFR2 gene; PCR/RFLP to detect the P250R mutation in FGFR3.
See interpretative report