A full clinical exome for a fast diagnosis
EXOME 15MB is currently the most complete solution for the immediate analysis of all known clinically relevant genes (6,000 genes).
EXOME 15MB is the perfect fit for clinical cases with a particularly difficult differential diagnosis. Notably EXOME 15MB covers much more genes and base pairs than its alternative on the market, which covers just 4,800 genes.
EXOME 15MB TRIO is also available for trio testing (patient, mother and father) for the prompt detection of de novo mutations. Incidental findings (ACMG 2013 list) can be reported as well.
Additional info and technical specifications
Clinical exome sequencing (CES) consists in the sequencing of all clinically relevant genes, i.e. all the genes known to date whose mutations associate to disease. In particular EXOME 15MB, our best CES solution, includes genes associated to Mendelian inherited disorders such multiple malformation syndromes, metabolic disorders, late onset diseases, all forms of isolated mental retardation, and susceptibility to cancer. CES includes also some genes with limited evidence of clinical relevance (e.g. genes reported in just a single publication) and some genes associated to multi-factorial diseases. In this sense EXOME 15MB is really the best option to do an expanded search of mutation at affordable costs.
EXOME 15MB is run by default at coverage of 100x. Upon request, coverage 200x and coverage 80x are also available. The analysis includes the sequencing of all exons and exon/intron boundaries of clinically relevant genes (click here to see the list of genes). Variants are called from ALL genes and are filtered with first and second level bioinformatic analysis plus manual scanning based on the clinical information of the patient. Thorough clinical info is recommended to ensure a high level of granularity in the interpretation. Incidental findings (ACMG 2013 list) can also be reported upon request.
Accepted samples for EXOME 50MB includes: already purified DNA (better if eluted in water), EDTA-blood, Breda Genetics buccal swabs, Breda Genetics filter cards, saliva.
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!