News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.
The team plans to launch an RNA-seq diagnostic test out of the SickKids clinical laboratory in one year to complement clinical exome sequencing.
The authors of CAP's practical framework for NGS testing of inherited disorders see it as a baseline for future efforts to standardize NGS testing.
The clearance enables 23andMe to report on the two most common variations in the MUTYH gene influencing MAP, which increases risk of CRC development.
The acquisition is expected to enhance Health Network Laboratories’ inherited genetic disorders diagnostic services offerings.
The firm's assay measures the concentration of the wild type and mutant alleles of hFE protein at three different mutation sites from a person's blood sample.
