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Boosted trio testing for WES

EXOME 60MB is our main offer for whole exome sequencing with the interpretation of all data. It is perfectly indicated for cases of diagnostic odyssey. Unparalleled in its coverage of the entire coding regions of all 20,000 human genes, and sustained by the solidity of industrial capturing. EXOME 60MB TRIO is the boosted whole exome sequencing solution for trio testing (patient, mother and father). Combining genetic data from the patient and the parents is particularly indicated for the identification of disorders caused by de novo mutations and may unveil mutations in as-yet unknown genes.

Our long-standing experience in the clinical interpretation and medical validation of genetica data, coupled with the extensive coverage of this analysis, will give you a superior diagnostic success rate (market average for whole exome sequencing: 27-29%, our diagnostic rate: about 40%; read here for more info on the detection rate).

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Additional info and tech specs

EXOME 60MB is a whole exome sequencing solution based on the sequencing of all 20,000 human genes. EXOME 60MB also includes the analysis of the entire mitochondrial DNA. The human exonic content is of 60 megabases. All genes are covered in their entire coding region and exon/intron junctions. Exceptionally, rare regions may not be covered due to the presence of overlapping segmental duplications or tandem repeats.

Technical specifications

Human exonic content: 60 megabases. Coverage: 100x (data comparison in trio testing allows for variant confirmation at even lower coverage levels). Higher and lower coverage depth is available. Incidental findings may be reported for both index and parents upon patient’s consent. Genes covered: all human genes (about 20,000 genes).

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