Individuals identified as needing homozygous FH evaluation will receive confirmatory genetic testing from Invitae and genetic counseling from Genome Medical.
Efforts highlighted at last week's AACR meeting included new efforts to advance gene expression signatures, improve PD-L1 tests, and calculate MSI across tumor types.
Research presented at ACMG by Invitae suggests that clinically actionable variants in cancer patients are missed by germline testing that is not done with expanded panels.
The test will run on Oxford Nanopore's MinIon and will be used as a reflex test when the standard PCR test does not give a clear answer.
In a retrospective analysis, UK researchers found that long-read sequencing of HLA genes in stem cell transplantation donors and recipients led to better outcomes.