NX GEN SEQ, AMYOTROPHIC LATERAL SCLEROSIS
Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease and the most devastating of the neurodegenerative disorders which leads to death of upper & lower motor neurons. The earliest sign of the disease is asymmetric weakness followed by progressive wasting & atrophy of muscles and fasciculations. Though ALS is a sporadic illness, but 10% of cases are inherited as an autosomal dominant trait called Familial ALS. Mutations in the C9orf72 gene account for 40-50% of familial ALS. SOD1 gene mutations cause 20% of familial ALS whereas TDP43 & FUS/TLS gene mutations each account for about 5% of such cases. Mutations in other genes like Optineurin, TBK1 & Profilin-1 each cause about 1% of cases. It is estimated that 60% of individuals with familial ALS have an identifiable genetic mutation.
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Parameters
- Nx GEN SEQ AMYOTROPHIC LATERAL SCLEROSIS