Saethre-Chotzen Syndrome
Analysis ID 82
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 FGFR3 (exon 7)
Analysis description Sequencing analysis of exon 7 of FGFR3 gene
Analysis indication Symptoms of Saethre-Chotzen Syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders