Panel testing enhanced with UTR regions
EXOME PANEL 90MB is the most extensive solutions for panel testing, being all genes enhanced with UTR analysis.
EXOME PANEL 90MB is made on the basis of whole exome sequencing enhanced with UTR sequencing, which we perform based on a kit of 90 megabases of human exonic content including 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). Mutations in the 5'-UTR and 3'-UTR are rare, but may have major pathogenic or modulatory effects. With EXOME PANEL 90MB, no variants in the regulatory regions will be lost. 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)!
Additional info and technical specifications
EXOME PANEL 90MB 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).
EXOME PANEL 90MB is performed on the basis of whole exome sequencing (WES) enhanced with UTR sequencing. Coverage: 100x. Higher and lower coverage levels are availalble upon request. Incidental findings can be reported upon patient's consent.
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 firstname.lastname@example.org: we'll send them right away!