Feb. 27, 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 to expanded carrier screening 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.
“In the past, we’ve typically used many different platforms to cover the plethora of tests, from NGS and qPCR to capillary electrophoresis. With CarrierSeq ECS kit, we can consolidate many of the tests, which really improves our lab efficiency,” said Luis A. Alcaraz, PhD, scientific and lab director at Bioarray (Elche, Spain), an early access customer, in a Thermo Fisher press release.
The kit detects more than 28,000 nonbenign ClinVar variants, including single nucleotide variants and copy number variants, and contains optimized reagents and a customizable carrier reporter software for data analysis and reporting.