Testing Customized for Your Institution
All genetic tests are not equal. With our whole genome platform we see more. Including in tests designed specifically for your institution’s needs.
Genetic tests customized to the needs of your patient population
We offer a broad portfolio of tests for rare disease, reproductive and oncology applications. These include targeted tests that restrict analysis to a small number of predefined genes as well as comprehensive tests that open analysis to the entire genome.
Yet we understand that there are times when a custom solution is desired. When you have a routine need to order a specific test that is not covered by our current test portfolio, we are happy to work with you to develop a custom test for your institution that meets your unique specifications.
Our whole genome platform 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) which 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 whole genome platform include:
Sequence variants
Including SNVs, indels, intronic and regulatory variants
Repeat expansions
Short tandem repeat expansions in >35 genes
Structural variants
Including CNVs (duplications, deletions), inversions and MEIs
Note: Test limitations will be determined by the genes specified, but may include: partial coverage (all pathogenic variants may not be detected), non-unique regions (not all variants may be assigned to the correct location), repeat expansions in selected genes may not be identifiable or may have an undetermined false negative rate. Common variants are typically not included in the analysis (e.g. risk variants) and variants requiring specialized algorithms may not be included (e.g. haplogroup analysis). For all genes, interpretation is limited to assessment of pathogenicity based on ACMG variant interpretation guidelines for rare germline disease.
Our collaborative process makes custom testing easy
Step 1
You provide the custom gene list that meets your needs.
Step 2
Our scientists implement the gene list within our platform as a unique, customized test.
Step 3
The customized test is made available for routine ordering by your team.
Interested In learning more?
Let’s talk about your institution’s testing needs.