Chondrodysplasia
Analysis ID 40
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Chondrodysplasia
OMIM #119600
Clinical information Cleidocranial dysplasia is one of the most common skeletal dysplasia. The symptoms include clavicular hypoplasia or aplasia, delayed closure of the cranial sutures, prominent forehead, and hypertelorism. Inheritance is autosomal dominant, and the disease is caused by mutations in the RUNX2 gene.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes RUNX2
Analysis description Sequencing analysis of the RUNX2gene
Analysis indication Symptoms of cleidocranial dysplasia
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders