Thermo Fisher Scientific Ion Torrent CarrierSeq ECS Kit

Thermo Fisher Scientific has introduced the Ion Torrent CarrierSeq ECS Kit for expanded carrier screening. The AmpliSeq-based panel, which runs on the Ion GeneStudio S5 sequencer, covers 420 genes, including difficult-to-sequence ones like 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. It detects more than 28,000 non-benign ClinVar variants, including single nucleotide variants and copy number variants, and comes with customizable Carrier Reporter software.