Whole Exome Sequencing WES Test
Method: NGS DNA Sequencing
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- Results in : 4 weeks
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Whole Exome Sequencing WES Test Cost 24000 Rs
Whole Exome Sequencing WES Test Details
Frequently Asked Questions
What is the cost of Whole Exome Sequencing WES Test?
Cost of Whole Exome Sequencing WES Test is 24000 Rs
What is Whole Exome Sequencing?
Whole-exome sequencing is a widely used next-generation sequencing (NGS) method that involves sequencing the protein-coding regions of the genome. The human exome represents less than 2% of the genome but contains ~85% of known disease-related variants,1 making this method a cost-effective alternative to whole-genome sequencing.
Who should undergo the Whole Exome Test?
Patient with undiagnosed genetic disease (extensive evaluation and multiple genetic tests, without identifying the aetiology)
Patients presenting with Heterogeneous phenotypes
Intellectual disability / developmental delay
Cardiomyopathy; Epilepsy; Undiagnosed metabolic disorder; Immunodeficiency
How does WES work?
During the library preparation, genomic DNA is fragmented, and targeted regions are captured by hybridization using biotinylated oligonucleotide probes in solution. The captured target sequences are isolated using streptavidin beads, and after washing and elution steps, are used for subsequent amplification and sequencing.
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 Illumina platform. The sequence data that is generated is aligned and analyzed for sequence variants.
Why whole exome sequencing?
Enables comprehensive coverage of exons to target medically relevant genomic regions, including known disease-associated sites and untranslated regions (UTRs)
Increases variant discovery potential, including rare and low-frequency mutations using next-generation sequencing (NGS) technology.
Eliminates the need to sequence the entire genome, offering a cost-effective alternative to WGS
What is Next Generation Sequencing?
Next-generation sequencing (NGS) is a massively parallel sequencing technology that offers ultra-high throughput, scalability, and speed. The technology is used to determine the order of nucleotides in entire genomes or targeted regions of DNA or RNA.
What is the cost of Whole Exome Sequencing
The cost of Whole Exome Sequencing is 28000 Rs
How much time does it take for the reports?
The reports takes 4-5 weeks