Whole Exome Sequencing (WES) sequences the entire coding region of the genome, targeting all Exome and splice junctions. This method allows for the identification of variations across the protein-coding regions of all genes, rather than just a specific subset. Since most known disease-causing mutations are found within Exome WES is often more effective than whole genome sequencing for identifying these mutations
When should you consider a Whole Exome Sequencing (WES) test?
Can be considered for certain patients where the combination of symptoms does not allow an exact diagnosis/phenotype of suspected genetic disease.
Situations where delayed differential diagnosis may have a significant impact on the patient's quality of life.
In certain cases where a stepwise diagnostic strategy often substantially increases costs and time
Physician cannot provide any plausible diagnosis from the symptoms
Where there is no other alternate technique to confirm the diagnosis and to end the diagnostic odyssey
Who should undergo Whole Exome Sequencing (WES) Test?
Patient with undiagnosed genetic disease (extensive evaluation and multiple genetic tests, without identifying the etiology)
Patients presenting with Heterogeneous phenotypes:
Bone and connective tissue disorders; Short stature; Complex dimorphic features
Whole Exome Analysis can be used to identify variants inherited from the parents causing recessive disease or dominant disease. Additionally, de novo variants that occur in the offspring but are not present in either of the parents can also be detected
What is the test methodology?
Next-generation sequencing using genomic DNA extracted from blood, the coding regions of all the genes are captured and sequenced simultaneously by NGS technology on an MGI platform. The sequence data that is generated is aligned and analyzed for sequence variants.x`)
Why should you consider NUGENE's Whole Exome Sequencing (WES) test?
Confronting the diagnostic challenge with whole Exome sequencing is the best choice when you need a fast and cost-effective one-step solution to complete the diagnostic process of complex and unsolved cases.
Uniform coverage across Exome region with a mean depth of >80-100X. More than 98% of targeted base pairs covered at ≥10
All protein-coding regions along with the intron-exon boundary regions of ~23,000 genes and mitochondria encoded genes
Comprehensive detection and analysis of both SNVs and CNVs. Sensitivity of detecting CNVs is 75-99% depending on the length and zygosity of the del/dup
Requisite quality control steps throughout the workflow from the laboratory sample processing till the interpretation ensures consistency, validity and accuracy of results
