Por que realizar este exame?

Alzheimer’s Disease (AD) is a progressive and irreversible neurological disease that manifests itself with cognitive deterioration and behavioral disorders. AD can be classified according to age and time of onset (before or after 55-60 years) in early or late, or due to absence or presence of familial aggregation. The most common form is late onset, with or without familial aggregation, which occurs in approximately 90% of cases. Between 30-40% of cases of late involvement present familial aggregation. A family member affected by AD is an important risk factor in the development of the disease. AD is a complex alteration in which multiple factors act, among them, the genetics. Therefore, a genetic analysis may contribute to an early diagnosis of the patient.

O que é o exame?

The ADGen Exam is a genetic profile that analyzes 5 genes (APP, PSEN1, PSEN2, APOE and A2M) related to the development of Alzheimer’s disease, making possible the early diagnosis. These genes and their analyzed variants have been widely recognized in diverse databases and scientific publications. The analysis is performed through distinct techniques of amplification and sequencing of the patient’s DNA.

Para quem é indicado?

• Patients with family history of AD.
• Patients with mild or moderate cognitive impairment who wish to determine their genetic risk.
• Patients without symptoms who wish to determine their genetic risk.

Tecnologia

Sanger Sequencing

Vantagens

SYNLAB GROUP:
• Guaranteed from the experience of the Synlab group, the absolute European leader in laboratory diagnosis.
RELIABLE:
• It uses the Sanger sequencing method that guarantees 100% coverage of all bases reads of the DNA.
• Any pathogenic mutation or mutation of uncertain significance is confirmed by a new DNA extraction.
GENETIC COUNSELLING:
• Genetic counseling available at no additional cost according to the needs of each client.

Informações Extras

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


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

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