MOLECULAR STUDY RISK AGE-RELATED MACULAR DEGENERATION (AMD), BUCCAL SMEAR

New Test in CIC Catalog

Test Code: 3924

Sample:	Bucal smear
Conservation:	Room temperature
Method:	Real-Time PCR
Set Up Days:	Daily
TAT (Days):	10 days
Information:
The related macular degeneration (ARMD) is the leading cause of legal blindness in people over 55 years in the Western world. Several family studies have determined that susceptibility to this disease has a clear genetic influence ranging between 46% and 71%. Knowing the risk of AMD allows early detection and proper control eye that helps to slow or halt the progression of the disease. AMD is a chronic degenerative disease is a major public health problem, despite being largely unknown among the general population. It is estimated that the incidence of AMD in Spain each year exceeds the 26,000 new cases, remains the leading cause of legal blindness in the Western world in people over 55 years, one in three people suffer this disease to reach 75 years of life. Early diagnosis is key because without treatment, the disease may progress more quickly. Risk factors as: Age, family history of AMD, Genetics (different polymorphisms associated with disease), smoking, sex (women have a higher risk of AMD than men), ethnicity (Caucasian population is more likely to suffer AMD than African American or Hispanic), having AMD in one eye increases the likelihood of suffering in the other eye, hypertension and / or cardiovascular disease, eye features (such as colored iris: blue eyes), lens opacity, hyperopia or aphakia (no lens), obesity. The test genetic risk of developing AMD is based on the study of two groups of genes in DNA. The first group corresponds to certain components of the complement system and the second group is related to cellular oxidative stress. The complement system is an enzymatic cascade that occurs naturally in the body, whose function is to eliminate pathogens from the bloodstream by two different methods of action. Patients suffering from AMD showed an increase in complement activity, associated with an increased level of inflammation, capable of damaging the eye tissue. Furthermore the alterations in the oxidative balance, can generate free radicals capable of damaging seriously the cells and further retinal photoreceptors due to its low capacity for regeneration. For the important relationship of these processes with the course of the disease, determining the genetic susceptibility to suffering them allows us to classify the genetic risk of developing AMD associated with each patient. This test is recommended for the general population without any symptoms and people with risk factors. The test genetic risk of AMD combines the information encoded in DNA of patients with lifestyle to estimate the risk of the disease in different stages of age. The test result is classified into 5 groups at risk, with 1 being the lowest risk and 5 the highest.

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