Saethre-Chotzen Syndrome
Analysis ID 78
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Saethre-Chotzen Syndrome
OMIM #101400
Clinical information Saethre-Chotzen Syndrome belongs to a group of craniosynostosis and is characterized by brachycephaly, facial asymmetry, high and prominent forehead, as well as low frontal hairline. Mild mental retardation is extremely rare. This disorder is caused by the mutation in the FGFR3 or TWIST gene.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes TWIST
Analysis description Mutational screening of the TWIST gene (50% of all causative mutations); sequencing of exon 7 of the FGFR3 gene (mutation p.P250R responsible for up to 30% cases).
Analysis indication Symptoms of Saethre-Chotzen syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders