Thermo Fisher Scientific has launched a new next-generation sequencing (NGS)-based solution, which is said to help reproductive health researchers in analysing a wide range of key genetic markers.

The biotechnology firm said that its new solution, dubbed Ion Torrent CarrierSeq ECS Kit, which works on the Ion GeneStudio S5 System, will consolidate the expanded carrier screening (ECS) into a single solution.

The new Torrent CarrierSeq ECS Kit is said to extend the reproductive health research portfolio, including tools for prenatal, postnatal, invitro fertilization and newborn screening analysis, offered by the company.

Thermo Fisher reproductive health vice president and general manager Yan Zhang said: “We designed the CarrierSeq ECS Kit by tapping into our deep R&D expertise in panel design, algorithm development, assay optimization, and software development.

“The end result is a straightforward, ready-to-use solution that our customers can confidently implement in their lab. The addition of this kit underscores our mission to enable our customers to make the world healthier.”

CarrierSeq ECS Kit has optimised reagents and turnkey carrier reporter software

Thermo Fisher said that it has designed CarrierSeq ECS Kit to contain a 420-gene, AmpliSeq-based panel, which combines various stand-alone tests, into a single assay.

The stand-alone tests include 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.

The kit has is said to detect more than 28,000 non-benign ClinVar variants, including both single nucleotide variants (SNVs) and copy number variants (CNVs), and is equipped with optimised reagents and a customisable carrier reporter software for data analysis and reporting.

Bioarray scientific and lab director Luis A Alcaraz said: “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. In addition, because Carrier Reporter Software is intuitive to use, we can confidently perform various analyses and customize our reporting quickly.”