Close Menu

sequencing-based diagnostics

Avalon said that it will collaborate with genomic sequencing and PCR firm Da An Gene to accelerate exosome diagnostic product development and commercialization. 

Early research has shown the open-source ExpansionHunter software to be highly accurate in identifying repeat expansions that indicate rare diseases.

The companies will share bioinformatics and NGS expertise to speed the identification of diseases, accelerate drug discovery, and find "genomic shields."

The firm said that prior to obtaining US regulatory clearance, it's making the assay available for use as a lab-developed test by US laboratories with CLIA approvals. 

In a cohort of some 300 people with intellectual disability, a genomic approach offered a likely diagnosis some 60 percent of the time.

Molecular Autopsy Consortium of Houston members outlined their recommendations for using molecular autopsy to investigate unexplained deaths in young people. 

Six percent of patients diagnosed by exome sequencing received more than one molecular diagnosis, which can be important for their clinical management.

The life sciences company can now offer its genetic tests in all 50 states in the US, as well as Canada and several other countries. 

The 95-gene test is for detecting leukemia, myelodysplastic syndromes, and myeloproliferative disorders and can return results in less than one week.

Sequencing technologies were more prevalent than ever at the Association for Molecular Pathology's corporate workshop day.

Pages

The US National Institutes of Health's All of Us project awarded $4.6 million to the company Color to develop a genetic counseling resource for the program.

The Times of India reports on a pilot study that used genomic testing to determine whether patients had drug-resistant tuberculosis.

New guidelines say that more women may benefit from genetic testing for hereditary breast or ovarian cancer, according to the Los Angeles Times.

In Cell this week: small proteins identified among human microbiome, role for tumor microbes in pancreatic cancer survival, and more.