Myocilin Gene

WHAT IS THE MYOCILIN GENE?

All living beings are composed of DNA (deoxyribonucleic acid); it is our genetic fingerprint. Certain parts of the DNA called genes are inherited and are associated with diseases. The myocilin gene is a gene linked to glaucoma in up to 20% of patients. If you have changes (mutations) in the gene, it can increase your risk of developing glaucoma. Scientists have been studying this gene for 15yrs.

 

HOW WILL THE TEST BE PERFORMED?

The test is a blood test that is sent to the lab. The sample is analysed with specialised equipment designed to identify mutations (changes) within the myocilin gene. Once the test is complete, the sample is safely disposed as per International guidelines. Strict confidentiality is observed.

 

HOW WILL MY RESULT HELP?

The test can take up to six weeks to complete. There can be three results; absence or presences of mutations (changes) in the gene known to be associated with glaucoma; or new mutations that are unique to you.

To clarify, if you have mutations that are linked to glaucoma, your ophthalmic surgeon will screen for early progression to reduce the risk of blindness. Your doctor will discuss the results with you and advise accordingly. You may consider discussing the results with your family members at risk ie siblings/ children. The aim would be to screen early to identify and treat early to prevent blindness.

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