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

Last modified: 04.09.2015

News

Blueprint Genetics strengthens its pharmaceutical expertise with new Chairman Hilde Furberg and by appointing Guido Oelkers as a Senior Advisor

Published on December 5, 2018

Blueprint Genetics has gained worldwide momentum and continued global growth in the field of clinical genetic testing of rare inherited diseases. As one of the fastest growing clinical genetic testing businesses globally, Blueprint Genetics has a customer base spanning more than 40 countries. Today, Blueprint Genetics is proud to announce…

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