Prenatal Testing

Helping you provide in-house screening for expectant mothers

Non-invasive prenatal testing (NIPT) provides women with high-risk pregnancies the ability to determine whether their baby has a high or low probability of having a chromosomal disorder, without the slight miscarriage risks inherent in more traditional amniocentesis and chorionic villus sampling procedures. However, when a more comprehensive screen is needed, whole genome sequencing (WGS) of amniotic fluid (invasive) can identify the presence of large and small disease-causing mutations missed by non-invasive methods. With our advanced technology and regulatory expertise we can work with you to set up an efficient and customized analysis, review and clinical reporting workflow for amniotic fluid DNA screening.

Perform targeted non-invasive prenatal testing with your in-house sequencer

Our Genomic Intelligence® platform is designed to seamlessly integrate with your in-house sequencer, while we work with you to automate the sample to clinical report process for NIPT assays targeting the most common chromosomal disorders: Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome). 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, can accurately and efficiently identify overrepresented chromosomal fragments.

Outsource sequencing for more comprehensive prenatal screening using WGS

Using whole genome sequencing technology makes it possible to perform invasive prenatal 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 amniotic fluid test, providing the most comprehensive rare disease variant coverage possible.

Automated, customized clinical reports

The Genomic Intelligence® diagnostic console can be configured to support review of data from invasive prenatal tests. 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 clinical reports, based on their review of the results. Or, at any time, we can train your clinicians to use the console to perform their own review and generate their own clinical reports. The choice is yours.

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