Touraine-Solente-Gole syndrome
Analysis ID 39
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Touraine-Solente-Gole syndrome
OMIM #259100
Clinical information Touraine-Solente-Gole syndrome – autosomal dominant disorder, affecting osteo-articular system. The syndrome starts in puberty and has progressive nature. Characteristics clinical symptoms include subperiosteal ossification, digital clubbing, joint swelling of the hands and feet, painful joints, nail abnormalities, thickening of the skin, excessive sweating, and seborrheic skin changes. This syndrome is caused by mutations in the 15-hydroxyprostaglandin dehydrogenase gene.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes HPGD
Analysis description Sequencing analysis of the HPGD gene
Analysis indication Clinical diagnosis of Touraine-Solente-Gole syndrome
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders