The disease is an inherited form of muscular dystrophy characterized by a repeat expansion of 50 CTG trinucleotides or greater in the DMPK gene.
The tests from Asuragen and MolecularMD are designed for use in chronic myeloid leukemia patients, including those receiving tyrosine kinase inhibitor therapy.
Asuragen's technology will be used in the Early Check study to identify children with rare health conditions, such as fragile X syndrome, before symptoms appear.
The assay was shown to have a simpler workflow and was able to detect mosaicism, with only a slight decrease in sensitivity compared to a lab-developed test.
The QuantideX NGS DNA Hotspot 21 kit is designed for use on the Illumina MiSeq platform and screens for 21 common genomic variants across a variety of cancers.
Asuragen test kits to detect major and minor BCR-ABL fusions can now run on the Roche Diagnostics Cobas z 480 Analyzer.
An artificial intelligence-based analysis suggests a third group of ancient hominins likely interbred with human ancestors, according to Popular Mechanics.
In Science this week: reduction in bee phylogenetic diversity, and more.
The New York Times Magazine looks into paleogenomics and how it is revising what's know about human history, but also possibly ignoring lessons learned by archaeologists.
The Economist reports on Synthorx's efforts to use expanded DNA bases they generated to develop a new cancer drug.