Analysis ID 138
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Aniridia
OMIM #106210
Clinical information Aniridia is a rare genetic disorder characterized by lack of the iris. Familial forms of aniridia comprise 85% of all cases and undergo autosomal dominant inheritance. In 15% cases the malformation is caused by de novo mutations of the PAX6 gene. Additional symptoms may include nystagmus, photophobia, squint, cataract, and amblyopia.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in the EDTA tube
Analyzed genes PAX6
Analysis description Analysis of the entire coding sequence of PAX6 gene
Analysis indication Aniridia
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders