Por que realizar este exame?

Thiopurines are drugs widely used in the treatment of leukaemia (acute lymphoblastic leukaemia, acute myeloid leukaemia and chronic myelogenous leukaemia) and autoimmune diseases (inflammatory bowel disease, ulcerative colitis, Crohn’s disease, rheumatoid arthritis, multiple sclerosis and systemic lupus erythematosus, among others). They are also used as immunosuppressants after transplantation. Genetic variants have been described in the gene encoding the TPMT enzyme, which generate inactive or partially active enzymes. These mutations in the TPMT gene are responsible for the variation in response to treatment with thiopurines and the significant percentage of serious adverse reactions to these drugs.

O que é o exame?

The genetic profile FG – Onco Thiopurines studies the main allelic variants of the TPMT gene with known clinical relevance. These mutations are responsible, together, for more than 95% of the reduced TPMT enzyme activity. The aim of the analysis is to identify those patients with a decrease in TPMT enzyme activity and an increased likelihood of developing serious side effects and toxicity to thiopurine treatment.

Para quem é indicado?

• Patients on pharmacological treatment who wish to customize medication based on their genetic profile
• 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
20 working days
Tipo de Amostra
5 mL whole blood in EDTA tube

Assine a nossa newsletter

Cadastre-se para receber novidades sobre nossos exames