Multiple Epiphyseal Dysplasia
Analysis ID 62
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Multiple Epiphyseal Dysplasia
OMIM 132400
Clinical information Multiple Epiphyseal Dysplasia – genetic disorder, which belongs to skeletal dysplasias. Characteristic features comprise short stature, brachydactyly, and abnormal epiphysis. MED is genetically heterogeneous and can be caused by mutations in the number of genes, including COMP.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes COMP
Analysis description Sequencing analysis of exons 10,11,12,13,14,15,16 of the COMP gene. Mutations located within these exons are responsible for 10-30% of cases.
Analysis indication Symptoms of Multiple Epiphyseal Dysplasia
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders