Next Generation Sequencing

Comprehensive genetic test for unexplained clinical conditions.

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What is Next Generation Sequencing?

Next Generation Sequencing (NGS) is a high-throughput DNA sequencing technology that can read millions of DNA fragments simultaneously. NGS processes massive amounts of genetic data in parallel, making it practical for clinical and research use.

What is Whole Exome Sequencing

The exome is the protein-coding portion of the genome, making up only ~1–2% of total DNA but containing ~85% of known disease-causing mutations. WES sequences only this coding region. It is faster, cheaper, and easier to interpret than WGS, and is currently the most widely used NGS method in clinical diagnostics.

Whole Genome Sequencing

WGS sequences the entire genome in both coding and non-coding regions. It provides the most complete genetic picture, capturing mutations that WES would miss (such as those in regulatory or intronic regions). It is more expensive and generates vastly more data, requiring advanced bioinformatics to interpret, but is increasingly used as costs fall.

Who Should Consider Taking Whole Exome Sequencing?

  • 1. Individuals who have undiagnosed genetic diseases even after a full genetic investigation.
  • 2. Individuals who may present with heterogeneous symptoms like developmental delay/learning disability, cardiomyopathy, epilepsy or seizures.
  • 3. Individuals who have symptoms that cannot be classified into a single diagnostic category.
  • 4. Those seeking a quicker and relatively cost effective diagnostic tool than the stepwise genetic testing strategies.

What Do Whole Exome Sequencing Test Results Mean?

  • WES test results typically fall into one of the following categories:
  • Pathogenic Variant: A genetic change known to cause disorders.
  • Likely Pathogenic Variant: A variant strongly suspected to be disease-related but requiring further evidence.
  • Variant of Uncertain Significance (VUS): A genetic change not conclusively linked to disease.
  • Negative Result: No disease-causing mutations were detected.

Technical specification

Platform

Illumina Nova Seq 6000

Variant type

SNV, CNVs, MtDNA Mutations

Sensitivity & Specificity

99-100%

Coverage

~23,000 genes with 80-100x coverage

Sample type

Blood in EDTA tube

TAT

4 weeks

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Why choose OneDNA

Early & Accurate

Non-invasive screening from 10 weeks with >99% sensitivity

Comprehensive Coverage

Detects common trisomies & key microdeletions

Advanced NGS Technology

Precise analysis of all chromosomes

Accredited Laboratories

Processed in CAP & NABL certified labs

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Frequently Asked Questions

In India, whole exome sequencing costs vary depending on the lab. For these tests, OneDNA offers affordable prices, comprehensive assistance, and excellent outcomes. Book an appointment for a consultation now!

A standard panel only looks at a pre-selected group of genes related to a specific condition. WES sequences all 20,000+ protein-coding genes in the genome. This "big picture" approach is far more likely to find answers in complex cases where a specific cause hasn't been identified.

Whole blood, obtained in EDTA tubes, is a commonly used sample for the whole exome sequencing. The genomic DNA required for accurate analysis and testing is provided by this blood sample, guaranteeing accurate detection of genetic variants.

Yes, the whole exome sequencing can uncover de novo mutations, which are genetic changes that occur in the child but are not found in the parents. This feature makes it an essential diagnostic tool for specific genetic disorders.

OneDNA combines state-of-the-art sequencing technology with a patient-first approach. We don’t just deliver a report; we provide a clear roadmap for your health journey through: Precision Diagnostics: Using the latest genomic databases. Expert Support: Access to specialized genetic counselors. End-to-End Care: From seamless home sample collection to post-test clinical guidance.

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