MOVEMENT DISORDERS: CLINICAL EXOME PANEL (Sec. & CNVs) – 418 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Movement Disorders panel analyzes 418 genes associated with a wide spectrum of inherited neurological disorders affecting motor control, including dystonias, choreas, tremors, myoclonus, ataxias, genetic parkinsonisms, and hyperkinetic or hypokinetic syndromes. These disorders can have neurodegenerative, metabolic, or mitochondrial origins and manifest in childhood or adulthood. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies pathogenic variants in genes involved in synaptic transmission, energy metabolism, mitochondrial function, dopaminergic signaling, and neuronal homeostasis. Among the most relevant genes are ADCY5, ATP1A3, ATP13A2, PRRT2, PARK2, PINK1, DCTN1, GRN, TREM2, COQ8A, and ATP7B, among others. You can consult the complete list of genes by contacting Genotica.
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