Whole Exome Sequencing – An extensive cost effective genetic testing technology offering high diagnostic yield with accuracy

Whole Exome Sequencing

Whole Exome Sequencing (WES):

A comprehensive approach to the detection of disease-causing mutations present in the exome of an individual. Exome covers the protein-coding region of the genome; also called exons. Most of the genes responsible for any genetic abnormality and chromosomal disorder in a suspected individual are located in the exons. Sequencing of all the exons can help in identification of genetic cause behind the symptoms and signs observed in an individual. WES, an approach based on Next Generation Sequencing, is used for the detection of germline mutations located in the exome of an individual. Simultaneous screening of all the exons is an important aspect associated with this technique.

Need of Whole Exome Sequencing:

The information obtained from targeted genetic testing technologies may not be sufficient to find the root cause behind the observable symptoms and signs in an individual. In such cases, diagnosis is delayed, which may have a severe impact on the medical health and treatment of an individual. WES is preferred in such specific cases as it screens all the exons of the genome for potential disease-causing mutated genes. Whole-exome sequencing genetic test diagnose single nucleotide variations and insertions and deletion of several sequences by default with high sensitivity and accuracy.  

Clinical Exome

Sampling and Methodology:

The blood sample is acquired from the suspected individual and is sent to the processing laboratory for further analysis. Genomic DNA is isolated from the blood and is used for Whole Exome testing procedure. Further procedures are based on Next Generation Sequencing (NGS) platform. The data generated by NGS is aligned and analyzed for variations present in different gene sequences.

Advantages of Whole Exome Sequencing:

This methodology offers complete genetic coverage of all the exons with sequencing depth > 100x. The test provides 97-99% accurate and reliable results about an unknown genetic condition. The results can help in risk assessment of different family members pertaining to that specific genetic condition. Analyzing the results can help the doctors in management and designing specific medication for suspected disease identified.

Genes2Me for WES:

Genes2Me Whole-exome test offers exceptional sensitivity and uniform exon coverage (covering approximately 22,000 genes). The test also uses the latest Next Generation Sequencing platform for processing the samples. Pre and post genetic counselling sessions are also provided for better interpretation of results along with the benefits associated with WES. The results obtained are also confirmed with Sanger sequencing. The results of the WES test can be obtained within 5-6 weeks. Doubtful of a suspected genetic condition and not getting informative results from regular targeted genetic tests. Go for Genes2Me WES!  

Leave a Reply