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.
Three genetic testing companies form a coalition to influence how Congress considers genetic privacy, The Hill reports.
University of California, San Diego researchers investigate how skin care products influence the skin microbiome, Scientific American reports.
The Wall Street Journal examines billing codes used by uBiome.
In PNAS this week: links between lung adenocarcinoma and lncRNA, algorithm to impute and cluster Hi-C interaction profiles from single cells, and more.