EXOME PANEL 60MB

EXOME PANEL 60MB is the ultimate, most innovative and most extensive solution for panel testing in genetically heterogeneous disorders.

EXOME PANEL 60MB is made on the basis of whole exome sequencing, which we perform based on a kit of 60 megabases of human exonic content which includes all 20,000 human genes. Once all genes have been sequenced, bioinformatics and clinical interpretation are activated for the requested panel (see here the list of panels). Because we sequence all human genes by default, we can include even the most recently discovered ones, which are usually unavailable in traditional panels based on targeted next generation sequencing. And if the panel is negative, we can analyze any additional panel (ADD-ON PANEL) or even upgrade to full data analysis (UPGRADE TO FULL)!

EXOME PANEL 60MB is an ideal option to face not only with genetically heterogeneous disorders but also with complicated differential diagnoses. Our panels are designed to include any possible relevant genes to a certain disorder. In addition, because we sequence all human genes by default, we are able to add even the newest and most recently discovered genes in your panel, going well far beyond traditional panel testing based on targeted NGS. And if the panel is negative, we can go on by pulling out sequencing data from any additional gene or panel (ADD-ON GENE, ADD-ON PANEL) or by analyzing all the remaining human genes (UPGRADE TO FULL).

Technical specifications

EXOME PANEL 60MB is performed on the basis of whole exome sequencing (WES), which we perform by sequencing all human genes for a total of about 60MB (20,000 genes). Any EXOME PANEL 60MB is run by default at coverage 100x. The analysis covers all exons and exon/intron boundaries. For additional specifications on whole exome sequencing you can read EXOME 60MB. Upon request, incidental findings can also be reported.

Accepted samples: DNA (in water or TE), EDTA-blood, Breda Genetics buccal swabs, Breda Genetics filter cards, saliva. Please contact us in advance if you would like to send other types of samples.

Need buccal swabs or filter cards?

We’ll send you a bunch for free!

Our high-yield swabs and filter cards are made up of a special, extra-capturing material which ensures the collection of plenty of cells. As such, they are perfect for any kind of molecular genetics assay like exome and genome sequencing! Ask us a bunch at info@bredagenetics.com: we’ll send them right away!