genetic screening to identify risk of genetic disorders

Understanding risk factors for inherited genetic disorders is an important step in evaluating reproductive options. Expanded carrier screening (ECS) research and preimplantation testing offer critical insights that may increase probability of success for future pregnancies and healthier future generations.

Next-generation sequencing (NGS) has revolutionized reproductive health research with high-throughput technology for rapid sequencing of DNA with high accuracy. NGS has expanded both our menu of known genetic variants and our capacity to identify them. Ion Torrent NGS solutions deliver scalable, precise sequencing for better reproductive health outcomes.

broad gene panel screening for risk of inherited disease

Pan-ethnic expanded carrier screening

Uncovering genetic risk and carrier status data has proven helpful in providing scientific insights for reproductive options. While traditional carrier screening only targets single gene disorders according to ancestry or family history, ECS by NGS screens for genetic disorders that occur at increasing frequency in broader populations.

Ion Torrent CarrierSeq ECS Kit

This 420-gene panel enables the analysis of >36,000 non-benign ClinVar variants for single-nucleotide variants (SNVs), insertions and deletions (indels), and copy number variants (CNVs)—all with a single, consolidated NGS assay.

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preimplantation embryo screening

Preimplantation testing

When in-vitro fertilization (IVF) is identified as a likely path to successful pregnancy, Preimplantation genetic testing (PGT) provides testing labs with genetic information in the research of embryo prioritization.

Ion ReproSeq PGS kit + PGD-SEQ kit

The Ion ReproSeq PGS kit for PGT-A and PGD-SEQ kit for PGT-M enable simultaneous research of chromosomal abnormalities and monogenic disorders for IVF with a single sample and one convenient NGS workflow.

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These comprehensive, end-to-end genetic analysis solutions include reagents for library preparation, template preparation, and sequencing, plus simple, integrated data analysis and reporting tools, making results accessible, regardless of NGS or bioinformatics expertise.

Ion GeneStudio S5 System

scalable targeted NGS for small and large projects

Ion GeneStudio S5 systems provide simple, sample-to-data workflows for targeted sequencing, with industry-leading speed and scalability. Five Ion S5 chips enable a sequencing throughput range of 2M to 130M reads per run. Combined with the Ion Chef System, this complete solution provides a walk-away workflow that includes automated Ion AmpliSeq library preparation and reproducible template preparation and chip loading, with less than 45 minutes of hands-on time. All Ion Torrent NGS workflows are backed by application-specific analysis and reporting solutions.