Exceptional findings with OS-Seq in an arrhythmia patient

Published on April 9, 2015

Sequencing of channelopathy genes with the BpG Arrhythmia Panel revealed a de novo mutation in the CACNA1C gene in an adolescent with ventricular fibrillation but normal development, consequently not only expanding the phenotype of Timothy Syndrome Type 2 but also demonstrating the power of large gene panels. The standard has been to select specific gene tests for patients with established clinical diagnoses, however the sometimes even surprising overlap between genotypes and phenotypes supports the use of comprehensive gene panels. This first published case report illustrates beautifully how our unique targeted sequencing method (OS-Seq) was applied successfully in establishing the genetic diagnosis in a patient where simply clinical examination and traditional genotype-phenotype approach would have failed to determine the underlying disease mechanism.

To read more and download the report click here

News

We’re hiring a HR Manager in Helsinki!

Published on July 11, 2017

Blueprint Genetics is looking for a highly motivated and skilled HR Manager, to support our growth on our way to becoming a global leader in clinical genetic testing, starting as soon as possible in Helsinki, Finland   Main responsibilities: Managing recruitments and employee-in processes of a rapidly growing company Talent…

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