Craniosynostosis represents a heterogeneous group of disorders arising from both genetic and environmental factors. The craniosynostosis syndromes are usually sporadic, autosomal dominant disorders that have significant clinical overlap.
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
20 days targetted testing, 40 days gene screening
Disease / group
FRGFR2, FGFR3, TWIST, TCF12
Call in advance?
Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis