Carrier Screening

Helping you provide in-house carrier screening tests for inherited disorders

Most inherited disorders are recessive and rare, but studies have shown that a significant number of individuals tested are carriers of at least one disease-causing mutation. Carrier screening enables prospective parents to determine whether they are at risk of passing a genetic mutation to their children and to make informed family planning choices  Whether you’re already running NGS tests or are looking to update Sanger sequencing tests to current NGS methods, our advanced technology and regulatory expertise can help you set up an efficient and customized analysis, interpretation and clinical reporting workflow for targeted as well as expanded carrier screening. Bringing reimbursable, profitable tests in-house while providing superior service to your clients.


Perform targeted carrier screening with your in-house sequencer

Our Genomic Intelligence® platform is designed to seamlessly integrate with your in-house sequencer, automating the sample to clinical report process for small panel tests targeting specific conditions such as cystic fibrosis, Tay-Sach’s disease, hearing loss and many others. Patient information and FASTQ sequence data is securely transferred to our HIPAA-compliant cloud platform where gold-standard tools and best practices, combined with proprietary algorithms, accurately and efficiently identify small sequence changes and structural variants within a single test. As a result, comprehensive coverage of relevant mutations is assured.

Outsource sequencing for expanded carrier screening using WGS

Using whole genome sequencing technology makes it possible to perform carrier screening for the most complex types of mutations, including trinucleotide repeat expansions responsible for fragile X syndrome, Huntington’s disease and more. Our Genomic Intelligence® platform links you to our network of integrated, world-leading clinical sequence providers. The resulting FASTQ sequence data is securely transferred to our cloud platform where our proprietary bioinformatic pipeline identifies small sequence changes, structural variants, mitochondrial variants and trinucleotide repeat expansions within a single test, providing the most comprehensive carrier mutation coverage possible.

Automated, customized clinical reports

The Genomic Intelligence® diagnostic console makes it easy to review and interpret found variants. With a single click, a clinical report fully customized with your organization’s logo and medicolegal language is generated. Our board-certified medical geneticists can generate and sign the clinical reports, based on their interpretation of the results. Or, at any time, we can train your clinicians to use the console to perform their own interpretation and generate their own clinical reports. The choice is yours.

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