From genes to chromosomes - tools to analyse human genetics

Targeted next generation gene sequencing

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

Applied Biosystems^TM 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.

Ion AmpliSeq gene panels for inherited disease

Select from 13 Ion AmpliSeq^TM 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 AmpliSeq^TM exome workflow includes Ion S5^TM XL or Ion Proton^TM sequencing systems together with the Ion AmpliSeq^TM RDY exome kit and Ion Reporter^TM data analysis software for DNA sample to complete data analysis within 24 hours.

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

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 mutation genotyping with qPCR

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

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.

Ion AmpliSeq^TM RNA panels

Create and order custom RNA panels using Ion AmpliSeq^TM 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 AmpliSeq^TM 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 Biosystems^TM TaqMan^TM 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

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.