Radioulnar synostosis
Analysis ID 120
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Radioulnar synostosis
OMIM 179300
Clinical information Radioulnar synostosis is a bony fusion between both forearm bones. There are two types of radioulnar synostosis, i.e. proximal and distal. This malformation can be caused by mutations in the HOXA11 gene.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes HOXA11
Analysis description Analysis of the entire coding sequence of the HOXA 11 gene.
Analysis indication Radioulnar synostosis
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders