Genetic testing for the diagnosis of Parkinson's disease
This test analyses mutations in specific genes associated with Parkinson's disease.
How can we help you?
Non-obligation guidance
What is it?
It is a test that analyses mutations in specific genes associated with Parkinson's disease (PD). These mutations may increase the risk of developing the disease or influence its severity and progression.
The genes included in the study are GBA, LRRK2, PARK2, PARK7, PINK1, SNCA, ADH1C, TBP, PRKN, ATXN2, ATXN3, MAPT and UCHL1.
What is its cause?
PD has multifactorial causes, including genetic and environmental factors. The genetic mutations identified in the study explain only a percentage of cases, mainly those with early onset or family history.
What is the incidence?
It is the second most common neurodegenerative disorder after Alzheimer's disease and affects approximately 1% of the population over the age of 50.
Overall, it is estimated that only about 10% of PD cases have an identifiable genetic cause.
How is it diagnosed?
The genetic study is carried out by means of a blood sample, which is analysed by massive sequencing (NGS) looking for mutations in specific genes associated with PD.
How this study helps the medical specialist?
- To confirm the diagnosis of PD in cases of clinical doubt.
- Predict the risk of developing the disease in people with a family history.
- To predict the severity and progression of the disease.
- Select the most appropriate treatment for each patient.
- To provide relatives with information about their own risk of developing the disease.
In which cases is it indicated?
- Patients with early-onset PD (before the age of 40).
- Patients with a family history of PD.
- Patients with atypical or difficult to diagnose symptoms.
- Patients who do not respond to conventional treatment.
Author: Dr Belén Lledó