Whole Exome Sequencing (WES)

It is a genomic technique that focuses on sequencing all the protein-coding regions of the genome, known as exons. These regions represent about 1-2% of the entire genome but are responsible for producing proteins, where the majority of disease-causing mutations occur. WES is primarily used to detect genetic variants, including single nucleotide changes, insertions, and deletions, that may be associated with inherited diseases and genetic disorders.

WES provides a more targeted and cost-effective alternative to Whole Genome Sequencing while capturing the most clinically relevant mutations. It is widely used for diagnosing rare genetic disorders, identifying the genetic basis of complex diseases, and guiding personalized medical treatments.

BNP-400

4-6 weeks

NGS

EDTA Blood, DNA, POC, AF, CVS