We See More in NICU Cases
All genetic tests are not equal. With our whole genome platform we see more. More variants, with greater resolution, all with one sample.
A timely genetic diagnosis can be life saving
When there’s an acutely ill newborn or child in the NICU/PICU, time-sensitive medical management is imperative for ensuring the best outcome. Rapid whole genome testing can be an important tool in your medical arsenal as an accurate genetic diagnosis may:
- Identify disorders with specific targeted treatments
- Identify treatments to stop or avoid
- Identify eligible clinical trials
- Reduce the need for additional, invasive testing
- Inform family planning
- Connect families with support networks
Many NICU patients benefit from genetic testing
Whole genome testing reveals more in every test
Genetic disorders are caused by a wide variety of DNA changes. Comprehensive detection of all major clinically relevant variant types requires the right technology. Which is why we use PCR-free whole genome sequencing (WGS) that generates uniform coverage of >98% of the patient’s DNA. Compare that to PCR-based panel and exome technologies that remove and skew data, generating fragmented coverage of only 1-2% of the patient’s DNA. Pairing WGS with our Genomic Intelligence® proprietary analytical software provides the most comprehensive variant detection available.
Variants detected by our Genomic Unity® Lightning Genome Analysis include:
Sequence variants
Including SNVs, indels, intronic and regulatory variants
Structural variants
Including CNVs (duplications, deletions), inversions and MEIs
Repeat expansions
Short tandem repeat expansions
Mitochondrial variants
Including small sequence changes with heteroplasmy and deletions
More variants are revealed with greater resolution
Our whole genome platform has a detection range from 1bp to whole chromosomal events. Intronic and intergenic regions are always included. As a result, our testing identifies a wide range of variants missed by other panel and exome tests – including variants that you would typically expect to be detected. Explore our technical note and representative example case to learn more about why this is.
Exome limitations in clinical practice
We describe recurrent exome testing limitations, derived from direct case observations, that highlight the reasons for a WGS diagnosis following negative or non-diagnostic WES testing. These include missed variants due to expected non-coverage, unexpected non-coverage and known limitations of the technology.
Shwachman-Diamond syndrome diagnosis
Variantyx testing identified compound heterozygous, pathogenic splice variants in the SBDS gene of a newborn female with suspected skeletal dysplasia. The gene is hard to sequence due to pseudogene interference. The findings provided guidance for clinical management, including avoiding the need for an invasive liver biopsy.
