What is a gene variant?

Among all human DNA sequences, about 99% are identical from person to person. However, a small portion of the genetic sequence varies between individuals—and these small differences can be very important to human health. These subtle changes in the DNA sequence are called polymorphisms, and they can alter the shape or function of proteins, potentially affecting normal bodily functions. As a result, they may make you more susceptible to certain diseases—or, in some cases, more resistant.
If you carry a gene variant, it may increase your risk of developing certain chronic diseases, but it does not mean you will definitely get the disease. This is because your gene expression is not fixed—it can be influenced by many factors including environmental toxins, stress, sleep, exercise, diet, alcohol consumption, education level, and even personal relationships and romantic involvement.

Macular Genomics^®
Age-related macular degeneration is associated with variations in the complement factor H (CFH) gene, which plays a role in the immune system. When certain specific mutations occur in CFH, it leads to excessive complement protein activity, triggering local inflammation. This inflammation can sometimes damage the cells in the macula of the retina, resulting in the development of age-related macular degeneration. Testing for congenital genetic mutations can reveal a strong correlation with the future onset of macular degeneration. Healthcare professionals can assist in early preventive treatment planning for their clients.

Important insights provided by Genomics^® include

• Understanding your inherent susceptibility
  Specific genetic polymorphisms may influence your risk for certain diseases.
• Macular Genomics^®
  The macula is located at the central part of the retina and is responsible for the sharpest vision. Analyzing variations in the CFH gene can help in the early prevention of macular degeneration.
• Risk reduction
  With tailored recommendations on diet, environment, lifestyle habits, nutritional supplements, and medical support, you can optimize your genetic potential for better health outcomes.
• Follow-up evaluation
  Based on potential biochemical imbalances and clinical needs, additional follow-up testing can be recommended for ongoing health monitoring.