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Narcolepsy

Genetic Test

The HCRTR2 (Hypocretin Receptor 2) gene encodes a receptor protein that binds to orexins (also known as hypocretins), which are neuropeptides involved in regulating arousal, wakefulness, and feeding behavior via signaling pathways in the hypothalamus.
This receptor plays a key role in maintaining normal sleep–wake cycles and energy balance.
Mutations in the HCRTR2 gene have been associated with narcolepsy—a neurological disorder characterized by excessive daytime sleepiness and sudden loss of muscle tone (cataplexy)—as well as certain forms of migraine.
This genetic test targets two known HCRTR2 mutations associated with narcolepsy.

Disease Description

Narcolepsy is a neurological sleep disorder characterized by sudden, uncontrollable episodes of daytime sleepiness and an inability to regulate the sleep–wake cycle.
Affected animals may experience abrupt sleep attacks, during which they may appear unconscious or unresponsive, resembling a fainting episode.
These episodes typically occur without warning but are temporary, with spontaneous recovery occurring shortly afterward.