Whole Exome Sequencing

Whole Exome Sequencing

Non-returnable
Rs.88,000.00 - Rs.224,000.00
Whole Exome Sequencing is the best choice when you need an accurate, fast, and cost-effective one-step solution to complete the diagnostic process of complex and unsolved cases. Whole exome sequencing (WES) identifies changes in a patient's DNA by focusing on the most informative regions of the genome – the exome - or the region that examines all the protein coding regions of the genome.
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- It is estimated that most of the disease-causing mutations (about 85%) are located within the exons, so this is a cost-effective approach that results in quite a high diagnostic yield.
- The CentoXome® test offers a highly uniform coverage of the complete exome and detects simultaneously with high sensitivity single nucleotide variations (SNVs), small insertions/deletions (InDels) and copy number variations (CNVs) in a single test.
- The test offers highly uniform coverage of the whole exome (>20,000 genes)
- All protein-coding regions and intron-exon boundary regions
- Mean depth ≥70x; ≥98% of targeted bases covered at ≥20x
- Reliable and sensitive detection of SNVs, InDels and CNVs

WES is recommended: 
- For many patients with suspected genetic conditions the combination of symptoms does not allow suspecting specific genetic causes with a sufficiently high certainty. It is unclear which genes to look at.
- WES is also a good follow-on approach after more targeted approaches have been tried already and no causative variant was identified.
- Examples of conditions that could benefit with WES analysis include: Epilepsy, epileptic encephalopathies, muscular dystrophies/muscular disorders, ataxia, neuropathies, cardiomyopathies, skeletal dysplasias, immunodeficiency, deafness, blindness, intellectual disability and severe immunodeficiency
- WES can also be used as a first-line test for diagnosing rapidly critically ill newborns or children hospitalized in neonatal (NICU) or pediatric intensive care (PICU) to guide timely and appropriate clinical management
- Turnaround time - Regular ≤30 business days
- Fast (incurs additional costs) ≤15 business days
Download the brochure here.
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