Description
The Gold standard today in case of suspicion of Monogenic Disease is to use DNA microarray aCGH for CNV detection only
If the answer is negative a Whole Exome Sequencing ( should be practiced for more point mutation identification due to poor CNV detection capability,
Quite often diagnostic is stopped at the step of DNA microarray whatever the results are, which most part of the time are not very interpretable
The sequencing of the whole genome also enables this detection but its clinical use is impossible due to the mass of data to be processed and the cost of the analyzes
CoDE Seq™ is based on an augmented WES method using a much higher number of probes distributed uniformly throughout the genome
CoDE Seq™ is an optimized molecular diagnosis enabling the accurate detection of both copy number variations ( and coding point mutations
CoDE Seq™ not only detect all the CNVs identified by chromosomal DNA microarrays but is able to find additional CNVs due to a better resolution
CoDE Seq™only target 3 of the whole genome reducing time and costs
CNVs detection through CoDE seq aCGH and WES in 40 participants with aCGH data available over 82 patients with Mendelian obesity and/or intellectual disability has shown that CoDE seq has detected 181 CNVs, WES has only detected 114 CNVs and aCGH 97
50 % of the genetic diagnosis were explained by pathogenic CNVs and 50 % caused by pathogenic point mutations, a finding that as not been made so far and Should encourage to systematically look for both genetic events
Benefits: This technology is
- Fast Only one step
- Precise
- Ultra sensitive
- Easy to interpret
- Ultra economic (3/10 th of the WGS price