Glaucoma NGS panel
|ACVR1, ASB10, BEST1, CANT1, COL18A1, CYP1B1, FOXC1, LMX1B, LOXL1, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, PITX3, SBF2, SLC4A4, WDR36|
|Lab method:||NGS panel with CNV analysis|
|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
|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.
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