Aicardi-Goutieres syndrome panel

Aicardi-Goutieres syndrome panel
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Aicardi-Goutieres syndrome panel screens the following genes for mutations associated with the disease: ADAR, IFIH1, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 .

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Aicardi-Goutieres syndrome is a heritable disorder of the central nervous system, characterized by calcifications of the basal ganglia and white matter, and elevated CSF alpha interferon with no detectable infectious etiology. Mutations in the TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes have been identified in people with Aicardi-Goutieres syndrome. In most cases it is inherited in an autosomal recessive pattern, rarely, inherited in an autosomal dominant pattern .Pathogenic variants in the RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 are inherited in an autosomal recessive manner. Pathogenic variants in the RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 are inherited in an autosomal recessive manner, (Crow et al. 2015). ADAR pathogenic variants for AGS include missense and small deletions. RNASEH2B and SAMHD1 genes also have a small number of reported gross deletions In a recent comprehensive study of 374 patients (299 families) with a molecular diagnosis of AGS, pathogenic variants were found in the following percentages: 23% TREX1, 5% RNASEH2A, 36% RNASEH2B, 12% RNASEH2C, 13% SAMHD1, 7% ADAR, and 3% IFIH1 (Crow et al. 2015). Clinical sensitivity was found to be around 90% before the idenification of the additional caustive gene IFIH1 (Crow 2014).

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