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Within a few years, we have transformed human genetics research with efficient workflows taking even the most difficult to obtain samples to interpreted data in just a few hours. Whether you need to analyse specific genes, or the whole genome, we have fast, efficient and widely adopted solutions that encompass sample preparation through to bioinformatics analysis.

From mutation discovery to gene expression and genetic engineering studies, we have easy to follow workflows and kit solutions to enable you to further understand the biological meaning of your human genetics findings.

Analysis of single genes

Targeted next generation gene sequencing

Targeted next generation gene sequencing

Use ready-made gene panels or design your own with Ion AmpliSeqTM technology to detect gene fusion, genomic variations, SNPs, indels, and copy number variants.

Applied BiosystemsTM capillary electrophoresis

The trusted standard for Sanger sequencing and fragment analysis by capillary electrophoresis used to sequence the first human genome and the discovery of cystic fibrosis.

Inherited disease mutation discovery

Inherited disease mutation discovery

Ion AmpliSeq gene panels for inherited disease

Select from 13 Ion AmpliSeqTM gene panels, each with an average of 292 genes, organised by organ system or disorder classification. These panels detect causative gene variants with higher specificity and lower cost and turnaround time to whole exome and whole genome approaches.

Ion AmpliSeq exome sequencing

A rapid, cost-effective way to find common single nucleotide variants (SNVs), copy number variations (CNVs), and small insertions or deletions (indels), or rare de novo mutations underlying Mendelian and complex disorders. The Ion AmpliSeqTM exome workflow includes Ion S5TM XL or Ion ProtonTM sequencing systems together with the Ion AmpliSeqTM RDY exome kit and Ion ReporterTM data analysis software for DNA sample to complete data analysis within 24 hours.

Liquid Biopsy research

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From a single blood sample

Perform genetic analysis of cell-free and circulating tumour cell DNA in a single workflow, using either next generation sequencing or qPCR. Our complete solution includes sample preparation through to data interpretation.

Pharmacogenomics studies

pharmacogenomics

Pharmacogenomics studies

Choose from our next generation sequencing solutions or quantitative PCR workflows depending on the number of gene targets you want to test and the number of samples. We have the technology platform choices that enable you to keep your costs low and your data quality high.

Routine genotyping

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Routine mutation genotyping with qPCR

For gene expression, genotyping, copy number variation, protein detection,MicroRNA, orprotein thermal shift, ourApplied BiosystemsTM QuantStudioTM family of real-time PCR instruments provides the solution you need.

Reproductive genomics – preimplantation genetic screening

Reproductive genomics – preimplantation genetic screening

Rapid on-demand aneuploidy screening

The Ion ReproSeq PGS Kit and the Ion PGM System offer a comprehensive solution for preimplantation genetic screening (PGS) that provides the fastest and most affordable next-generation sequencing workflow for reliable chromosome screening of in vitro fertilisation embryos.

Gene expression analysis

Gene expression analysis

Ion AmpliSeqTM RNA panels

Create and order custom RNA panels using Ion AmpliSeqTM Designer. It generates high-quality amplicons that account for GC content and are filtered for repeats, SNPs, and target exons that represent the maximum number of transcripts.

Ion AmpliSeqTM transcriptome panels

Profile over 20,000 RefSeq transcripts using just 10ng RNA and obtain gene level expression information within 2 days, with just 1 hour of hands-on time.

Applied BiosystemsTM TaqManTM Advanced miRNA Assays

A streamlined upfront workflow that is ideal for analysis of multiple miRNA targets from a single sample or low-level RNA samples such as serum and plasma.

Genome editing tools

Genome editing tools

Genome editing tools

From precision genome editing and gene modification technologies to high-efficiency delivery systems, our broad range of solutions will help you to create modified genes, expression systems, and stable cell lines.