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.
Bloomberg reports that the DNA-for-cash deal reported in Kentucky might be a more widespread scam.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
St. Louis Public Radio reports that some African Americans are turning to DNA ancestry testing to help guide genealogical searches.
In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.