long QT syndrome
Most Patients With Inherited Heart Conditions Not Getting Guideline-Backed Genetic Testing
Researchers analyzed electronic health and claims records to discover very low genetic testing rates among patients with five inherited cardiovascular conditions.
Several Genes Linked to Long QT Syndrome May Not Be Causative, Reappraisal Finds
Nine of the genes analyzed had limited or disputed evidence linking them to long QT syndrome, suggesting they should not be included in genetic testing panels.
Small Subset of SIDS Cases Linked to Heart Disease in Exome Analysis
Researchers saw clinically actionable heart disease mutations in fewer than 5 percent of sudden infant death syndrome cases interrogated by molecular autopsy.
eMERGE PGx Study Highlights Challenges in Determining Pathogenicity, Returning Secondary NGS Results
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The study, focused on two genes associated with cardiac disorders, found that patient phenotypes did not correlate with the presence or absence of a pathogenic variant.
Drawing Lessons from US Gene Patent Cases, Canadian Hospital Focuses on Enabling NGS Testing
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NEW YORK (GenomeWeb) – A recently launched lawsuit in Canada challenging the practice of patenting genomic DNA is also asking the Federal Court to determine that advanced diagnostics utilizing next-generation sequencing platforms do not infringe patents on older testing methods involving the ampl