Extrapyramidal movement disorders are a group of neurological conditions that affect the extrapyramidal system, a network of neurons that is responsible for involuntary motor control, regulating coordination, muscle tone and automatic movements. This system is distinct from the pyramidal system, which is responsible for voluntary movements. Extrapyramidal disorders include several pathologies characterised by movement abnormalities that can be hyperkinetic (excess movement) or hypokinetic (decreased movement). The main conditions associated with extrapyramidal movement disorders include Parkinson's disease, characterised by bradykinesia (slowness of movement), muscle rigidity and tremor at rest; ballism, which causes rapid, involuntary and violent movements of the limbs; dystonia, characterised by prolonged and repetitive muscle contractions leading to abnormal postures; and chorea, which causes involuntary, rapid and irregular movements. Other conditions include athetosis, with slow and twisted movements, and dyskinesias, which are abnormal movements.

137 genes

120-180/100.000

Multi-gene panel aimed at the molecular diagnosis of extrapyramidal movement disorders.

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. 

..