Aniridia
Sequencing of the PAX6 gene

Genes
(full coding
region):		 PAX6
Lab method: Sanger sequencing
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

500 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: PAX6, SOX2, WT1
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Genetic counseling
  3. Prenatal diagnosis for known familial mutation

Aniridia is characterized by complete or partial absence of the iris. The symptoms of the disease may include foveal hypoplasia, reduced visual acuity, nystagmus, photophobia, glaucoma, cataract, and optic nerve hypoplasia.

Aniridia can be isolated or as a part of the WAGR (Wilms tumor, aniridia, genital anomalies and mental retardation) syndrome.

The prevalence of aniridia is estimated between 1:50 000-1:100 000.

Isolated aniridia is caused by mutations in the PAX6 gene or deletion of a regulatory region controlling PAX6 expression. WAGR syndrome is caused by a deletion of chromosome 11p13, the region harboring the PAX6 and WT1 genes. Isolated aniridia and WAGR syndrome are inherited in an autosomal dominant manner.