HEREDITARY ESSENTIAL TREMOR: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Hereditary Essential Tremor panel studies the genetic causes of this neurological disorder characterized by rhythmic, involuntary tremors, primarily affecting the hands and arms, but which can also affect the head, voice, or trunk. Although it usually has a benign course, it can lead to significant functional disability. In its hereditary form, essential tremor exhibits autosomal dominant transmission with variable penetrance, and mutations in genes involved in dopaminergic neurotransmission and neuronal integrity contribute to its development. Genetic analysis allows for confirmation of familial origin, differentiation from other causes of tremor (such as Parkinson's disease), and guidance of therapeutic management. Genes analyzed: DRD3, FUS, TENM4. You can consult the complete list of analyzed genes by contacting Genotica.
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