Whole Exome Sequencing - Advanced by NGS Test: Booking, Price, and Results
About Whole Exome Sequencing - Advanced by NGS Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | WES, Exome Sequencing, Clinical Exome Sequencing, WES Advanced NGS |
| Sample Type | Chorionic Villus (CVS) |
| Fasting Required | No |
| Report Time | 35 days |
| Recommended For | All ages and genders; primarily for individuals with suspected genetic disorders |
| Price | Starting at ₹30,000 |
What is a Whole Exome Sequencing - Advanced by NGS Test?
The Whole Exome Sequencing - Advanced by NGS test is a specialised genetic test that analyses the protein-coding regions of approximately 20,000 human genes. It uses next-generation sequencing (NGS), a high-speed DNA reading technology, to scan these regions for variants that may cause disease. Doctors order this test when a patient's symptoms suggest a rare or inherited genetic condition that cannot be explained by simpler tests. It is also known as WES, Clinical Exome Sequencing, or WES Advanced NGS.
What Does a Whole Exome Sequencing - Advanced by NGS Test Measure?
The protein-coding regions of the genome, collectively called the exome, make up less than 2% of all DNA but account for around 85% of known disease-causing changes. The Whole Exome Sequencing - Advanced by NGS test scans this region for the following types of variants:
| Variant Type | What It Means |
|---|---|
| Single Nucleotide Variants (SNVs) | A single letter change in the DNA code that may affect how a protein works |
| Small Insertions and Deletions (InDels) | Tiny additions or removals of DNA letters that can disrupt a gene |
| Copy Number Variations (CNVs) | Larger duplications or deletions of DNA sections |
| Splice-site Variants | Changes near the junctions of coding and non-coding DNA that affect how a gene is read |
Why is a Whole Exome Sequencing - Advanced by NGS Test Done?
This test is used when a patient's clinical picture suggests a genetic cause but routine investigations have not provided an answer. It is particularly useful for complex or multi-system presentations.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to recommend this test:
- Unexplained developmental delay or intellectual disability
- Seizures (fits or convulsions) without a clear cause
- Multiple birth defects or unusual physical features
- Muscle weakness or poor muscle tone
- Vision or hearing problems
- Autism spectrum disorder with unclear cause
- Unexplained metabolic or immunological issues
Conditions This Test Can Help Detect
A doctor may request this test to investigate any of the following:
- Neurodevelopmental disorders, including intellectual disability and autism
- Rare inherited (Mendelian) diseases
- Hereditary epilepsy syndromes
- Skeletal, cardiac, or connective tissue disorders with a suspected genetic basis
- Muscular disorders
- Metabolic and mitochondrial disorders
- Hereditary cancer syndromes identified as secondary findings
How to Prepare and What to Expect
The Whole Exome Sequencing - Advanced by NGS test procedure involves collecting a chorionic villus (CVS) sample. Preparation is straightforward, but there are a few important steps to follow.
Do You Need to Fast?
No fasting is required for this test. You can eat and drink normally beforehand.
Practical Tips Before Your Test
Keep the following in mind before your appointment:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test.
- Inform your doctor about any blood thinners you are taking; do not stop any medication without medical advice.
- Let your doctor know if you have recently had a blood transfusion or bone marrow transplant, as this may affect results.
- Pre-test genetic counselling is strongly recommended to help you understand what the test can and cannot detect, and what different outcomes may mean.
- Discuss with your doctor whether trio testing (testing biological parents alongside the patient) is appropriate, as this can increase the accuracy of results.
Step-by-Step Procedure
Here is what to expect during sample collection:
- You will visit a Lupin Diagnostics centre at your scheduled appointment time.
- A trained specialist will collect the CVS (chorionic villus) sample using a sterile container.
- The sample is labelled, sealed, and stored at 2 to 8 degrees Celsius to maintain quality during transport.
- The sample is sent to the NABL-accredited laboratory for DNA extraction and processing.
- Specialised probes capture the exonic regions of the genome for sequencing using an NGS platform.
- A bioinformatics team analyses the data and classifies any identified variants before the final report is prepared.
Factors That Can Affect Accuracy
The following factors may influence the reliability of your results:
- Poor sample quality or insufficient DNA quantity
- Low sequencing depth or coverage
- Recent blood transfusion or bone marrow transplant
- Somatic mosaicism, where only some cells carry a mutation, which can reduce detection sensitivity
- Variants in non-coding regions, large structural changes, or certain repeat expansions, which may fall outside the scope of this test
Understanding Your Whole Exome Sequencing - Advanced by NGS Test Results
Unlike routine blood tests, the Whole Exome Sequencing- Advanced by NGS test does not produce numerical results. Instead, any identified variants are classified according to internationally recognised guidelines. Your doctor or a genetic counsellor will walk you through the findings in detail.
| Classification | What It Means |
|---|---|
| Pathogenic | The variant is confirmed to cause disease |
| Likely Pathogenic | The variant is very likely to cause disease (greater than 90% certainty) |
| Variant of Uncertain Significance (VUS) | There is not enough evidence to classify the variant as harmful or harmless |
| Likely Benign | The variant is very likely harmless |
| Benign | The variant is confirmed harmless |
Source: ACMG/AMP Guidelines 2015
Disclaimer: These classifications are general guidelines. Your doctor will interpret your results in the context of your age, clinical history, family history, and other investigations. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Certain medical situations can affect how results are interpreted:
- A recent blood transfusion or bone marrow transplant may introduce foreign DNA into the sample, which could produce misleading findings.
- Somatic mosaicism (where a mutation is present in only some cells) may reduce the test's ability to detect certain variants reliably.
How to Maintain Healthy Levels
As this is a genetic test, the concept of "maintaining levels" does not apply in the usual sense. However, there are practical steps you can take after receiving results:
- Seek genetic counselling to fully understand what your results mean for you and your family.
- Consult a clinical geneticist or relevant specialist to discuss any identified findings.
- If a condition is identified, follow the recommended surveillance and management plan as advised by your doctor.
Lupin Diagnostics Whole Exome Sequencing - Advanced by NGS Test Price
The Whole Exome Sequencing- Advanced by NGS test cost at Lupin Diagnostics starts at ₹30,000. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test. The table below provides an indicative city-wise price overview:
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 30000 |
| CHENNAI | 30000 |
| HYDERABAD | 30000 |
| KOLKATA | 30000 |
| NAVI MUMBAI | 30000 |
| PUNE | 30000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to book your Whole Exome Sequencing- Advanced by NGS test online:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time for sample collection.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
Whole Exome Sequencing focuses only on the protein-coding regions of the genome, which represent roughly 2% of all DNA but contain the majority of known disease-causing variants. Whole genome sequencing reads the entire genome, including non-coding regions. WES is faster, more cost-effective, and sufficient for diagnosing most suspected genetic conditions.
This test is suitable for patients whose symptoms suggest a rare or inherited condition, especially when previous investigations have not provided a clear diagnosis. It is commonly ordered for individuals with neurodevelopmental disorders, unexplained seizures, multiple congenital anomalies, or a strong family history of a rare disease.
Studies show that the overall diagnostic yield of whole exome sequencing is around 28.8%. This figure rises when biological parents are tested alongside the patient (trio testing), reaching approximately 31%, compared to around 23.6% for the patient alone.
Trio testing involves analysing the patient's DNA alongside that of both biological parents. This comparison helps identify whether a variant is inherited or has occurred for the first time (de novo). It reduces variants of uncertain significance and improves diagnostic confidence significantly.
The report is delivered within 35 days from the receipt of a suitable sample at the Lupin Diagnostics laboratory. Turnaround time may vary if additional analysis or family testing is required.
A VUS means there is currently insufficient scientific evidence to confirm whether the variant is harmful or harmless. Your doctor may suggest testing other family members to help clarify its significance, or the variant may be reclassified in the future as more research becomes available.
No. The WES test is limited to coding regions and cannot detect variants in non-coding DNA, large chromosomal rearrangements, or certain repeat expansions. A negative result does not completely rule out a genetic disorder. Your doctor may recommend additional genetic tests if your symptoms remain unexplained.
Whole Exome Sequencing - Advanced by NGS Test: Booking, Price, and Results
