Amyotrophic Lateral Sclerosis (ALS) is the most common degenerative disease of the motor neuron system. It is characterized by the progressive loss of motor neurons in the brain and spinal cord, leading to paralysis. It begins insidiously with focal weakness but spreads ceaselessly to involve most muscles, including the diaphragm. The diagnosis of ALS rests on a history of painless progressive weakness coupled with examination findings of upper and lower motor dysfunction. Typically, death is due to respiratory paralysis and it occurs within 3 to 5 years of diagnosis. Many different genes and pathophysiological processes contribute to the disease, more so, there are two types of ALS differentiated by genetics: familial and sporadic. Although ALS is incurable and fatal, with median survival of 3 years, early treatment can lengthen and substantially increase quality of life for patients.
The Igenomix Amyotrophic Lateral Sclerosis Precision Panel can serve as an accurate and directed diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Amyotrophic Lateral Sclerosis Precision Panel is indicated in patients with a clinical suspicion or diagnosis presenting with the following manifestations:
- Reduced finger dexterity and cramping
- Tripping, stumbling or awkwardness when running
- Wrist drop and foot drop
- Slurred speech and hoarseness
- Impaired executive function
- Aspiration or choking
- Muscle atrophy
- Muscle cramps
- Voice changes
The clinical utility of this panel is:
- The genetic and molecular diagnosis for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of medical care with riluzole, enteral nutrition, non-invasive ventilation and preventive measures of complications.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
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