PAROXYSMAL EXTREMITY PAIN DISORDER: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Paroxysmal Severe Pain Disorder panel is designed to detect genetic variants associated with this rare neuropathic syndrome characterized by recurrent attacks of intense, burning pain, usually triggered by mild stimuli, temperature changes, or movement. These attacks can be localized to the rectal, ocular, or jaw area and are accompanied by skin reddening and increased local temperature. The disorder has an autosomal dominant inheritance pattern and is related to alterations in voltage-gated sodium channels, which are responsible for neuronal excitability. Identifying causative mutations allows for diagnostic confirmation, guides pharmacological treatment, and facilitates genetic counseling.
Genes analyzed: SCN9A, SCN10A, SCN11A.
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