..Parkinsonism refers to a set of neurological syndromes characterised by bradykinesia (slowness of movement), muscle rigidity, resting tremor and postural instability. Parkinson's disease is the most common form of Parkinsonism and is the second most frequent neurodegenerative disease after Alzheimer's. Clinically, it is characterised by these four main motor symptoms, as well as a good response to treatment with levodopa. There are also other atypical types of parkinsonism such as progressive supranuclear palsy, corticobasal degeneration, multisystem atrophy and Lewy body dementia, which are treated within the general framework of neurodegenerative syndromes.

37 genes

Approximately 1% -2% of the population at age 65. About 4% at age 85. About 15% of cases are of familial origin, although some studies suggest that up to 60% of sporadic cases could be explained by genetic risk factors.

Multi-gene panel aimed at the molecular diagnosis of parkinsonism.

Method: NGS sequencing, determination of SNVs (Single Nucleotide Variants), small insertions and deletions and CNVs (Copy Number Variants).

Limits: The test is unable to determine the presence of underrepresented somatic events, balanced chromosomal rearrangements, nucleotide expansion events of repeat regions, CNVs <3 contiguous exons. <3 esoni contigui.

Some genes may have low coverage areas, where necessary or upon specific request, within the limits of methodological limitations, sequencing can be completed with alternative methods (Sanger).

Some genes may be duplicated in the genome (pseudogenes), which may invalidate the analysis. 

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