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


New in ophthalmology panels

Published on March 16, 2018

We are proud to introduce our new improved panels. Since March 1st, a total of 157 panels have been updated and 21 new panels launched. Among the updated panels are ophthalmology genetic diagnostic panels, where we have significant improvement of quality and performance of genetic diagnostic testing for patients with…

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