Analysis ID 66
Analysis location “GENESIS” Centre for Medical Genetics
OMIM #101200
Clinical information Apert disease is an autosomal dominant congenital disorder with craniosynostosis and syndactyly as hallmark features. Malformations include premature closure of cranial sutures, cleft palate, as well as syndactyly of hands and feet (fusion of all digits is frequent). Mental retardation may also be observed. In most cases the disease is due to de novo mutation in the FGFR2 gene (coding fibroblast growth factor receptor 2).
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes FGFR2 (e3a, e3c)
Analysis description Sequencing analysis of the FGFR2 (e3a, e3c) gene - 2 common mutations p.S252W i p.P253R
Analysis indication Clinical suspicion of Apert syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders