Whole-genome and whole-exome sequencing technologies (WGS and WES) allow for the detection of multiple disease-related variants in a single test, confirmation of a clinical diagnosis, and informing family planning decisions. Having an in depth look at the genome can end a protracted, costly, and potentially invasive pursuit of a precise diagnosis. The application of these technologies in clinical practice potentially relieves the burden from health care systems and offers early and accurate molecular diagnoses ensuring optimal care for patients and their families.
Whole Exome and Whole Genome Sequencing
Whole Exome Sequencing
Whole-exome sequencing (WES) is a next-generation sequencing (NGS) method that analyzes the genome’s protein-coding regions. The human exome represents 2-3% of the genome. Still, it contains 85% of known disease-related, actionable mutations, making this method a cost-effective alternative to whole-genome sequencing with a faster turnaround time. WES costs 1/6 of the cost of whole-genome sequencing.
WES applications include detecting predictive, prognostic biomarkers and selecting targeted therapies for tumors. It is also used to identify known or unknown disease-causing variants in genetically complex, rare, or multi-systemic disorders
Whole exome
(2-3%) of the genome
30 working days
Blood Sample
(single,duo, trio or extended)
Whole Exome and Whole Genome Sequencing
Whole Genome Sequencing
Whole-genome sequencing (WGS) is the comprehensive analysis of an entire genome, encompassing both the coding and non-coding regions. It provides a high-resolution, base-by-base view of the genome that captures variants that might be missed with targeted approaches. WGS can detect single nucleotide variants, insertions/deletions, and large structural variants such as translocations and copy number variation.
Using WGS we can detect a broad range of known and potentially pathogenic allele types in a single test.
WGS is proven to be invaluable for the diagnosis of newborn and pediatric diseases, the quantification of microsatellite instability, the identification of biomarkers and actionable mutations for targeted therapy and immunotherapy.
Whole exome
30 working days
Blood Sample
(single,duo, trio or extended)