Axenfeld-Rieger Syndrome
Analysis ID 140
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Axenfeld-Rieger Syndrome
OMIM 180500
Clinical information Axenfeld-Rieger syndrome – autosomal dominant disorder affecting eyes and tooth development. The disease is caused by mutations in the PITX2 gene. In 50% cases the disorder leads to a loss of vision due to glaucoma.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes PITX2
Analysis description Analysis of the entire coding sequence of PITX2 gene
Analysis indication Axenfeld-Rieger Syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders