Thermo Fisher Scientific Ion Torrent CarrierSeq ECS Kit

Thermo Fisher Scientific has introduced a next-generation sequencing (NGS)-based solution designed to help reproductive health researchers more efficiently analyse a broad range of key genetic markers with an end-to-end workflow. The Ion Torrent CarrierSeq ECS Kit for the Ion GeneStudio S5 System consolidates a multiplatform approach to expanded carrier screening (ECS) into a single solution.

In the past, scientists have typically used many different platforms to screen for a large number of heritable genetic conditions during family planning, from NGS and qPCR to capillary electrophoresis. And while advancements in NGS are making ECS a more efficient, economical and accessible method, the high development cost to overcome lack of bioinformatics and assay development expertise has presented implementation challenges for reproductive health researchers in the past. By consolidating many tests into one, the CarrierSeq ECS Kit is designed to improve lab efficiency.

The 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. It detects more than 28,000 non-benign ClinVar variants, including both single nucleotide variants (SNVs) and copy number variants (CNVs), and contains optimised reagents and a customisable Carrier Reporter Software for data analysis and reporting. Because the software is intuitive to use, users can confidently perform various analyses and customise their reporting quickly.