Crouzon Syndrome
Analysis ID 67
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Crouzon Syndrome
OMIM #123500
Clinical information Crouzon syndrome is an autosomal dominant genetic disorder characterized by premature closure of cranial sutures. Facial dysmorphism includes shallow orbits, hypertelorism, prominent forehead. Is some patients other features, such as mental retardation, hydrocephalus, epilepsy, deafness, ocular abnormalities are also present. There is no syndactyly or digital affectation. Over 90% cases are due to mutations in the FGFR2 gene (fibroblast growth factor gene 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 gene (3a and 3c exons).
Analysis indication Symptoms of Crouzon Syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders