ngs analysis

A clinically validated platform

Built to handle whole genome sequencing data, and everything else

We designed the Genomic Intelligence® platform to work with the most complex data available. As a result, it provides sample to clinical report integration and automation for genomic tests of any size or scale:

checkmark Probe- and amplicon-based gene tests

checkmark Multigene panels

checkmark Exome and whole genome

Robust variant detection, streamlined validation

Proprietary algorithms detect all variant types

Developing a new clinical test requires a combination of secondary and tertiary validation exercises. As a clinical diagnostic lab that has processed thousands of samples, we have extensive expertise working with known positive and negative samples for calculation of sensitivity, specificity and positive predictive value for a wide variety of testing applications. Utilizing our expertise and unique library of samples significantly streamlines the validation process.

asteriskAbility to detect structural and mitochondrial variants depends on assay design, sequencing quality and sequencing depth

Panels Exome Genome
SNVs checkmark checkmark checkmark
Small indels (<50bp) checkmark checkmark checkmark
Structural variants (≥50bp) asterisk checkmark
Mitochondrial variants asterisk checkmark
Tandem repeat expansions checkmark

 

Uniquely flexible clinical reporting options

client report

Client generated clinical report

For clinically staffed labs seeking help with automation only, our platform as a service model allows your staff to work directly with the Genomic Intelligence® platform to interpret the data and prepare a white-labeled clinical report.

Variantyx signed report

Variantyx generated, signed clinical report

Ideal for labs new to NGS or for labs launching a test in a new clinical area, our board-certified clinical geneticists interpret the data, prepare and deliver a white-labeled, signed clinical report.

Variantyx unsigned report

Variantyx generated, unsigned clinical report

For labs seeking an intermediate solution, our board-certified clinical geneticists interpret the data, prepare and deliver a white-labeled, unsigned clinical report for review and signature by your staff.

Browse our solutions by application area

Rare genetic disorders

Rare genetic disorders

Prenatal testing

Prenatal testing

Cancer predisposition

Cancer predisposition

Carrier screening

Carrier screening

Genomic Intelligence® delivers

volume

High volume solutions


Seemless, end-to-end automation from sample to clinical report enables high volume processing of profitable tests

launch

Fast time to launch


Leveraging our clinical expertise for assay validation, data interpretation and report sign off significantly reduces development time

accuracy

Accurate test results


Our proprietary data analysis algorithms and sophisticated filters find complex variants missed by other analysis platforms

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