Glaucoma NGS panel

Genes
(full coding
region):		 ACVR1, ASB10, BEST1, CANT1, COL18A1, CYP1B1, FOXC1, LMX1B, LOXL1, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, PITX3, SBF2, SLC4A4, WDR36

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 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. Carrier testing for at-risk family members
3. Genetic counseling

Glaucoma is a group of eye diseases, in which damage to the optic nerve leads to progressive vision loss and blindness. In most people with glaucoma, optic nerve damage is caused by increased intraocular pressure. The two main types of glaucoma are open-angle and angle-closure.

In normal-tension glaucoma, optic nerve changes and narrowed side vision may occur with normal eye pressure.

Usually glaucoma develops in older age. The risk of early-onset glaucoma depends mainly on hereditary factors. Congenital glaucoma occurs due to structural abnormalities of the eye’s drainage canals and may be part of other syndromes. Congenital glaucoma is present at birth, it is typically diagnosed in the first year of life.

Secondary glaucomas can develop as complications of other conditions such as diabetes, high blood pressure, cataract, eye tumors or uveitis. The most common secondary glaucoma is pseudoexfoliation glaucoma.

References:

Abu-Amero KK and Edward DP. Primary Congenital Glaucoma. GeneReviews® 2004 September 30 (Updated 2014 March 20).
Genetics Home Reference https://ghr.nlm.nih.gov
National Eye Institute https://nei.nih.gov/health/glaucoma