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.  

Indication

• The Igenomix Parkinson and Early Onset Parkinson Disease Precision Panel is indicated in patients with a clinical suspicion or diagnosis presenting with the following manifestations: 
  • Resting tremor 
  • Slowing of movements (bradykinesia) 
  • Family history of early onset PD 
  • Rigidity 
  • Postural instability 
  • Psychosis 
  • Mood disorders 
  • Sleep disturbances 
  • Fatigue 
  • Pain and sensory disturbances 

Clinical Utility

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.  

Genes & Diseases