What is ExoMAX?
ExoMAX is a clinical whole exome sequencing test developed to identify the pathogenic variants that might be associated with the patient’s disease or phenotypes.
Although the Human exome is estimated to cover only 2% of the Human genome, it contains approximately 90% of the mutations in the DNA that can be disease associated. Followingvsequencing, a 2-stage analysis is carried out. Firstly, all variants in the sample are identified and categorised in terms of severity. The second stage involves linking variants with disease.
The fundamental advantage of Whole Exome Sequencing is almost all the exons in all the genes are sequenced. So the test is very comprehensive and has a superior diagnostic yield when compared to conventional methods of testing single genes, or using low-density microarrays. An Exome is the ~1% of the human genome human exome ~30Mb that is the most functionallyrelevant and most likely to cause noticeable phenotypes.
- Minimum 100X mean ON TARGET coverage using Illumina platform
- Faster turnaround time
- Targeted sequencing of coding regions
- Higher chance of interpreting meaningful variants