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.
CDI Labs HuScan and VirScan
CDI Laboratories' Antygen Division, which provides contract research for R&D in the therapeutic and diagnostic space, has launched two biomarker discovery assays, HuScan and VirScan. HuScan detects antibodies against the entire human proteome via long peptides on the surface of bacteriophages, antibody pulldown, and sequencing readouts. VirScan detect antibodies against the proteomes of every viral strain known to infect humans in the same manner. Both assays represent the first commercial use of PhIP-seq technology, the company said.
CeGaT Exome Xtra
CeGaT has launched the CeGaT Exome Xtra test, which the firm says increases the diagnostic yield compared to a standard exome test. Besides coding sequences, it includes all medically relevant regions throughout the genome, such as pathogenic and likely pathogenic intronic variants, disease-associated transcripts, cryptic exons, as well as the mitochondrial genome. In addition, the data analysis considers variants in genes with reduced penetrance, variable expressivity, imprinting effects, and SNV/CNV combinations.
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