Parkinson and Early Onset Parkinson Disease Precision Panel

Overview

Parkinson Disease (PD) is one of the second-most common neurodegenerative disorder affecting 2-3% of the population >65 years of age. It has traditionally been considered a motor system disorders, now recognized to be a complex condition with diverse clinical features. It is characterized by neuronal dopaminergic loss in the substantia nigra, a region in the brain in charge of gross motor movements. The clinical hallmarks of Parkinson disease include slowing of movements (bradykinesia), pin-wheel rigidity, resting tremor and postural instability. The etiology of Parkinson Disease is still unclear, but it is hypothesized to be a combination of genetic and environmental factors. Although incidence increases rapidly over the age of 60 it can also have an early onset. Generally, these patients have more involuntary movements and a poorer prognosis.
The Igenomix Parkinson and Early Onset Parkinson Disease Precision Panel can serve as an accurate and directed diagnostic tool as well as for a differential diagnosis of resting tremor ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

The clinical utility of this panel is:

The genetic and molecular diagnosis for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form of medical treatment to increase dopamine, nonpharmacologic treatment including education, support and neuroprotective benefits of exercise and nutrition as well of surgical care if needed.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.