CRANIOFRONTONASAL SYNDROME
Analysis ID 45
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness CRANIOFRONTONASAL SYNDROME
OMIM #304110
Clinical information Craniofrontonasal Syndrome - X-linked genetic disorder, occurring more frequently in females than in males. Clinical symptoms involve frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, low hairline, and cleft lip/palate.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes EFNB1
Analysis description Sequencing analysis of the EFNB1gene
Analysis indication Symptoms of craniofrontonasal dysplasia
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders