EXOME GENE 90MB

lab tube with bright blue liquid and DNA double helix inside

Enhanced top solution for single gene testing

EXOME GENE 90MB is the top solution to read both the entire coding sequence and the regulatory regions (5'-UTR and 3'-UTR) in single gene testing.

EXOME GENE 90MB consists in the analysis of a single gene sequence based on whole exome sequencing (WES) enhanced with UTR sequencing. Variants in regulatory regions are rare, but may be of clinical relevance in some genetic disorders. By sequencing all 20,000 human genes and their regulatory sequences in the 5'-UTR and 3'-UTR regions, we are able to look at even the longest and newest genes, unveiling potentially pathogenic or modulatory variants in usually neglected areas.  And if the sequence of that gene is negative, we can instantly look at any other gene or panel which is relevant to the clinical info of the patient (ADD-ON GENEADD-ON PANEL) or we can even reflex to the analysis of all human genes (UPGRADE TO FULL).

Additional info and technical specifications

EXOME GENE 90MB is indicated for the diagnosis, or carrier state detection, in monogenic disorders with low or no genetic heterogeneity, where UTR variants with pathogenic or modulatory effects have been reported. For disorders characterized by high genetic heterogeneity, or cases of unsolved diagnostic odyssey, EXOME PANEL 60MB/90MB, EXOME 60MB/90MBGENOME PANEL ore GENOME FULL are recommended.

Tech specs

EXOME GENE 90MB is performed on the basis of whole exome sequencing (WES) enhanced with UTR sequencing. The analysis is available at different levels of coverage. Human exonic content: 90 megabases.

Samples accepted: 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 any other kind of sample.

Breda Genetics filter cards and swabs webg

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 perfectly fit for any kind of molecular assay, from array-CGH to high-throughput NGS, including whole exome and whole genome sequencing! Do you want a bunch of them? Just write us, and we'll send them right away! info@bredagenetics.com.

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