Inherited Disease

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.

Feb
26
Sponsored by
Advanced Cell Diagnostics

This webinar will demonstrate how a research team at the Firestone Institute for Respiratory Health at McMaster University developed a cellular and molecular phenotyping pipeline using archived samples of lung tissue derived from patients diagnosed with fibrotic interstitial lung disease. 

Mar
21
Sponsored by
Loop Genomics

This webinar provides a comparison of next-generation sequencing (NGS) approaches for human transcriptome sequencing, including short-read Illumina sequencing and synthetic long-read sequencing technology.

Mar
27
Sponsored by
Swift Biosciences

Sequencing workflows require library quantification and normalization to ensure data quality and reduce cost. 

Apr
09
Sponsored by
Sophia Genetics

This webinar will present the utility of a personalized in silico analytical approach for the routine clinical diagnosis of channelopathies and cardiomyopathies.