EXOME GENE

lab tube with bright blue liquid and DNA double helix inside

One solution for any gene

EXOME GENE is the most modern approach to single gene genetic testing. And to step-wise testing.

EXOME GENE consists in the analysis of a single gene sequence based on clinical exome sequencing (CES). When the testing for a specific monogenic disorder is needed, we sequence all the 6,000 clinically relevant genes of the genome and we activate then the bioinformatic analysis and clinical interpretation of that single gene.

As fast as light step-wise testing: if the analysis of the gene you requested is negative, we can activate and report the analysis of any extra gene or panel in just three days (ADD-ON GENE, ADD-ON PANEL).

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Additional info and technical specifications

EXOME GENE has been designed to enable the simple confirmation of monogenic disorders. In case the gene requested is negative, we can immediately look at any additional gene or panel (ADD-ON GENE, ADD-ON PANEL). This enables fast and reliable step-wise testing to scan all alternatives of the differential diagnosis. EXOME GENE is particularly cost-effective, also in comparison to traditional Sanger sequencing of small genes. To look for analyzable clinical conditions you can search on our DISEASE FINDER. The list of available gene is here.

Technical specifications

EXOME GENE is performed on the basis of clinical exome sequencing (CES), which we perform by sequencing all clinically relevant genes for a total of about 15MB (6,000 genes, list of genes). Any EXOME GENE is run by default at coverage 100x. Upon request, coverage 200x and coverage 80x are also available. The analysis covers all exons and exon/intron boundaries. Upon request, incidental findings (ACMG 2013 list) can also be reported.

Accepted samples includes: already purified DNA (better if eluted in water), EDTA-blood, Breda Genetics buccal swabs, Breda Genetics filter cards, saliva.

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 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!

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