Muenke Syndrome
Analysis ID 77
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Muenke Syndrome
OMIM #602849
Clinical information Muenke syndrome is an autosomal dominant disorder characterized by uni- or bicoronal synostosis, macrocephaly, midface hypoplasia, and developmental delay. Other less constant features include abnormally-shaped middle phalanges, brachydactyly, carpal/tarsal fusion, and deafness. The phenotype has wide range of severity, from asymptomatic or subclinical manifestation to a severe form of disorder.
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 the FGFR3 gene
Analysis indication Symptoms of Muenke Syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders