Por que realizar este exame?

Age-related macular degeneration (AMD) is a chronic, degenerative ocular disease that progressively damages the macula, affecting the center of the field of view. Thus, AMD can produce the following vision changes: decreased central vision, perception of altered straight lines, presence of a blind spot in the center of the visual field, need for higher levels of light, and distortion in the perception of dimensions. It is estimated that currently about 350,000 people suffer from age-related macular degeneration (AMD). AMD is the leading cause of blindness in people over 55 years old in the Western world. One in three people will suffer from this disease when they reach 75 years old.

O que é o exame?

The genetic analysis consists of the evaluation of 8 SNPs-like polymorphisms in 4 genes associated with an increased risk of developing AMD. Two of the 4 genes (CFH and C3 genes) correspond to certain components of the complement system, and the other two genes (genes ARMS2 and MT-ND2) are related to oxidative stress. The complement system is an enzymatic cascade which function is to eliminate pathogens from the bloodstream. Patients suffering from AMD have an increase in complement activity, associated with a higher level of inflammation, which can damage the ocular tissue. On the other hand, changes in the oxidative balance can generate free radicals capable of seriously damaging the cells and especially the retinal photoreceptors, due to their low regeneration capacity.

Para quem é indicado?

• People with any of the following risk factors:
– Age greater than 50 years: Major risk factor.
– Sex: women are at higher risk than men.
– Ethnicity: Caucasians are more prone than other populations.
– Eye characteristics: Light iris color; hyperopia; opacity or absence (aphakia) of the lens.
– Presenting AMD in one eye increases the likelihood of development in the other eye.
– Smoking.
– Excessive sun exposure.
– Obesity.
– General diseases: Such as hypertension, diabetes and other cardiovascular diseases.
– High fat diet.
– Family history of AMD.
– Genetic predisposition factors.
• General population without symptoms.

Tecnologia

Real-time Polymerase Chain Reaction

Vantagens

SYNLAB GROUP:
• Guaranteed from the experience of the Synlab group, the absolute European leader in laboratory diagnosis.
GENETIC COUNSELLING:
• Genetic counseling available at no additional cost, according to the needs of each client.
COMPLETE:
• The analysis integrates the genetic and clinical information (age and life habits) of the patient, establishing the risk of suffering from AMD at different ages.

Informações Extras

DOCUMENTATION – Available on Extranet for clients:
• Informed Consent.
• Clinical Questionnaire.
PREPARATION:
• Fasting is not necessary for the test.


Tempo de Entrega
15 working days
Tipo de Amostra
5 mL of whole blood in EDTA tube

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