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.
By studying koalas and a retrovirus that infects them, researchers may have uncovered a new sort of 'immune response' that occurs at the genomic level, Agence France Presse reports.
23andMe has a holiday popup shop at a mall and could open additional stores, Bloomberg reports.
NPR reports that the first person in the US given a gene editing-based therapy for a genetic disorder is heading home.
In Science this week: ancient genomes reveal social inequality within individual households, new method for quantifying genetic variation in gene dosage, and more.