CAP TODAY Pathology/Laboratory Medicine/Laboratory Management
April 2020—Thermo Fisher Scientific introduced the Ion Torrent CarrierSeq ECS Kit for the Ion GeneStudio S5 system. The next-generation-sequencing–based solution consolidates a multiplatform approach into a single solution.
The CarrierSeq ECS Kit consists of a 420-gene, AmpliSeq-based panel that combines many standalone tests into a single assay, including difficult-to-sequence genes, such as SMN1 and SMN2 for spinal muscular atrophy, GBA for Gaucher disease, CYP21A2 for 21-hydroxylase deficient congenital adrenal hyperplasia, and HBA1 and HBA2 for alpha thalassemia.
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