Parkinson disease (PD)is the second more common neurogenerative disease affecting approximately 1-2% of individuals over 65 years. The first symptoms of Parkinson disease are usually shaking, rigidity, slowness of movement, and difficulty with walking. Tremors can also affect the arms, legs, feet, and face. These symptoms worsen slowly over time. Cognitive, behavioral problems and dementia may also develop in the advanced stages of the disease.
Most cases of Parkinson disease (90-95%) cases are sporadic and are believed to be caused by interaction of environmental and genetic factors. The aetiology of these sporadic cases is not fully understood.
Approximately 5-10% of patients have a family history of PD. The presence of mutations in some of the following genes has been associated to the development of familial PD.
Genesis Genoma Lab offers two panels for the molecular analysis of familial Parkinson disease:
1. Extended genetic analysis of Parkinson disease (including autosomal dominant, recessive and PD with dystonia): 12 genes analysed by Next Generation Sequencing (LRRK2, SNCA, GBA, VPS35A, PARKIN, PINK1, DJ1, TAF1, SLC6A3, ATP1A3, PRKRA and PLA2G6)
2. Atypical forms of Parkinson disease: 10 genes analysed by Next Generation Sequencing (ATP13A2, DCTN1, POLG, ATP1A3, GCH1, TH, PLA2G6, MAPT, FBXO7 and CSF1R)
Time to result: 4 weeks