Material: sangue EDTA EXT

Preparo:  Não é necessário jejum.

É recomendado o envio do Pedido Médico, Questionário com a história clínica do paciente e, caso a tenha, cópia do estudo molecular familiar no qual tenha sido detectada a mutação.

Sessão de downloads site Alvaro: Questionário Testes Genéticos e Termo de Consentimento Testes Genéticos.

Interpretação:

Gene: LRRK2
Mutações: SEQUENCIAMENTO

The LRRK2 gene provides instructions for making a protein called dardarin. The LRRK2 gene is active in the brain and other tissues throughout the body. Researchers have identified more than 100 LRRK2 gene mutations in families with late*onset Parkinson disease (the most common form of the disorder, which appears after age 50). These mutations replace single amino acids in the dardarin protein, which affects the protein’s structure and function,,,Leucine*rich repeat kinase 2 (LRRK2), also known as dardarin (from the Basque word dardara which means trembling), is an enzyme that in humans is encoded by the PARK8 gene.[1] LRRK2 is a member of the leucine*rich repeat kinase family. Variants of this gene are associated with an increased risk of Parkinson’s disease and also Crohn’s disease.

Coleta:  Coletar 1 tubo de sangue total com EDTA.
*Encaminhar sob refrigeração, sem contato direto com o gelo