Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis
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(ALS) panel is a molecular diagnostic test that screens for relevant mutations in ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB, DCTN1, FIG4, FUS, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA, and VPS54 genes.

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ALS, or amyotrophic lateral sclerosis, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Sporadic ALS is present in most cases ( 90-95%) , familial ALS accounts to remaining 5 to 10%. ALS can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner mutations in the genes coding for superoxide dismutase 1 (SOD1), TAR DNA-Binding Protein (TARDBP), fused in sarcoma (FUS), Ubiquilin2 (UBQLN2), C9ORF72 are closely associated with typical clinical phenotype.
Mutations in SOD1 have been reported in ~20% of familial LS and in ~1-4% of Sporadic ALS.
More than more than 50 FUS mutations have been identified in ~4% cases of famlilaial ALS and ~1% of Sporadic ALS cases..FUS mutations in familaial ALS patients present frontal-temporal dementia (FTD) and in juvenile ALS patients with basophilic inclusions Mutations of gene TARDBP are seen in ~4-5% in familila ALS and up to 2% in sporadic ALS Mutations in C9ORF72 gene account for between 25% and 40% of all familial ALS cases (depending on the population), and also approximately 4% to 6% of sporadic cases. SOD1 Gene mutations accounts for 10% of familial ALS, or 1.5% to 2% of all ALS.

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