MENDELIOME

Mendeliome-based options for fast and precise mutation detection

Mendeliome sequencing is our new validated and boosted solution for superior coverage in the analysis of all genes most commonly associated to inherited disorders (2,800 genes + mtDNA).

Mendeliome sequencing offers a coverage length which, in certain genes, may be even wider than the one offered by whole exome sequencing. This results in 100% diagnostic power in a faster and lighter way, at only 1-2 Gb of data produced. As all other exome and genome-based solutions, also Mendeliome sequencing can be integrated with algorithmic CNV testing based on sequencing data, to grant the detection of large deletions/duplications as well.

Mendeliome sequencing is available in three versions: MENDEL GENE (analysis of one single gene based on full Mendeliome sequencing), MENDEL PANEL (analysis of a multi-gene panel), and MENDEL FULL (analysis of all the 2,800 genes of the Mendeliome, available for both solo and trio testing). Incidental findings can be reported as well.

Additional info and technical specifications

Mendeliome sequencing consists in the sequencing of all genes which are most commonly associated to Mendelian inheritance (autosomal dominant, autosomal recessive, X-linked). These include genes associated to multiple malformation syndromes, metabolic disorders, late onset diseases, several forms of isolated mental retardation, and susceptibility to cancer. For certain genes, Mendeliome sequencing offers a coverage which may superior even in comparison to clinical or whole exome sequencing. Thanks to its reduced data output (1-2 Gb), Mendeliome data are lighter to manage, transfer and process and result therefore in reduced analysis costs and faster TATs.

Technical specifications

MENDEL GENE, MENDEL PANEL and MENDEL FULL are run by default at raw coverage of 160x (about 100x on target). They include the sequencing of all exons and exon/intron boundaries. Variants are called from one gene (MENDEL GENE), a panel of genes (MENDEL PANEL) or the entire Mendeliome (MENDEL FULL, solo or trio). It is recommended to send complete and detailed clinical information to ensure the highest level of granularity in clinical interpretation. Incidental findings be reported as well (upon request).

Accepted samples: DNA, 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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