Por que realizar este exame?

Epilepsy, also known as convulsive disorder, is a chronic disease characterized by a tendency to have recurrent seizures, which can cause neurobiological, cognitive and psychological consequences for the patient. The specific antiepileptic drug should be individualized according to the epileptic syndrome, the type of crisis, the age of the patient, presence of other conditions, interaction with other medications, specific patient characteristics (gestational age, pregnancy, weight, etc.) and patient preferences (side effects profile, number of intakes a day etc). The lack of tolerance and effect of pharmacological treatment of epilepsy may be largely due to genetic causes (85%), since the variation in the human genome is one of the most important factors responsible for modulating individual response to medications.

O que é o exame?

The genetic profile FG – Neuro Epilepsy studies the main metabolizing enzymes, transporters and targets involved in the activity of antiepileptic drugs. The analysis provides relevant information about the 11 most commonly used drugs, based on the study of 16 genetic polymorphisms, described in the scientific literature, present in the enzymes of the cytochrome P450 system: CYP2C9, CYP2C19, CYP3A4; in HLA-A and HLA-B complexes; and in the genes: POLG, CPS1, OTC, DRD2/ANKK1 and UGT2B15.

Para quem é indicado?

• Patients on pharmacological treatment who wish to customize medication based on their genetic profile
• Patients with drug side effects
• Patients in whom pharmacological treatments do not show the expected results

Tecnologia

Next Generation Sequencing (NGS)

Vantagens

SYNLAB GROUP:
• Guaranteed from the experience of the Synlab group, the absolute European leader in laboratory diagnosis.
COMPLETE:
• Detailed report including, in addition to the type of metabolism of each enzyme, which drugs can generate toxic effects and adverse reactions, as well as dose recommendations.
RELIABLE:
• Information provided by the analysis allows the selection of the most appropriate drug, and determines the most appropriate dose for each patient.
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
30 working days
Tipo de Amostra
5 mL whole blood in EDTA tube

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