Inherited Disease
News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.
Genes2Me Obtains CE Marking for Clinical Sequencing Panels
The panels, which were designed and have been validated for several common NGS platforms, cover oncology, pharmacogenomics, and hereditary diseases.Â
Centogene Q4 Revenues Decrease 39 Percent as COVID Testing Drops
The German rare disease company said its core business increased 34 percent in the fourth quarter, driven by both diagnostics and pharma revenues.
Senate Bill Proposes to Expand Medicare Coverage for Hereditary Cancer Testing
Legislators sponsoring the bill hope the move will improve access to cancer screenings, preventative surgeries, and save lives.
Free Mitochondrial Disease Genetic Testing Program Established by Zogenix, Others
The patient-initiated program is available to anyone in the US suspected of having mitochondrial disease.
Australian Researchers Adapt Melt Curve Methylation Test for Infant Rare Genetic Disorder Screening
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The test combines melt curve analysis and high-throughput, quantitative PCR to detect Prader-Willi, Angelman, and Dup15q syndromes in infants.