Analysis ID 79
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Cherubism
OMIM #118400
Clinical information Cherubism is a rare genetic disorder, inherited in an autosomal dominant manner. The syndrome is characterized by swelling of the lower face beginning at three or four years of age. The syndrome is usually progressive until the end of the second decade. Facial enlargement may be partly exaggerated by increased volume of submandibular lymphatic nodes.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes SH3BP2
Analysis description Sequencing analysis of the SH3BP2 gene (exon 2 - common mutations)
Analysis indication Symptoms of cherubism
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders