Multiple synostoses syndrome
Analysis ID 37
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Multiple synostoses syndrome
OMIM #186500
Clinical information Multiple synostoses syndrome comprises symphalangism of fingers, as well as shortening of metacarpals and middle phalanges. The syndrome may affect carpal bones, tarsal bones, and elbow joint, resulting in stiff joints and limited movements. In some cases conductive hypoacusis is also present.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes GDF5
Analysis description Sequencing analysis of the GDF5 gene
Analysis indication Multiple synostoses syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders