Apert Syndrome Variant Analysis
Apert syndrome features include craniosynostosis, midface hypoplasia, and soft tissue and bony syndactyly of fingers and toes. Less common findings include rhizomelic shortening, fused cervical vertebrae, hydrocephalus, and cardiac or gastrointestinal defects. Approximately 50% of individuals have varying degrees of developmental delay/intellectual disability. This laboratory performs Sanger sequencing of exon 2 of the FGFR2 gene.
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If there are questions regarding this test, please contact Client Services at 617-553-5880 or [email protected]
FGFR2 exon 2