Aniridia (AN)
Analysis ID 219
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Aniridia (AN)
OMIM #106210
Clinical information Although called aniridia, this disorder is a panocular disease, taking its name from the noticeable iris hypoplasia seen in most patients. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen on transillumination with a slit-lamp only. The effect on vision is similarly variable. In Gillespie syndrome aniridia is associated with cerebellar ataxia and mental retardation.
Type of analysis Molecular
Type of biological material Peripheral blood collected in an ETDA tube (5 ml); DNA sample
Analyzed genes PAX6
Analysis description Analysis consists of identification of microdeletions within the PAX6 gene with MLPA method
Analysis indication aniridia
Analysis time Appointed individually
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics