Whole Exome Sequencing-Trios Test: Booking, Price, and Results
About Whole Exome Sequencing-Trios Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | WES Trio, Trio WES, Clinical Exome Sequencing Trio, Family-Based Exome Sequencing |
| Sample Type | Chorionic Villus (CVS) in a sterile container |
| Fasting Required | No fasting required |
| Report Time | 35 days |
| Recommended For | All ages, both genders; primarily paediatric patients with suspected genetic disorders |
| Price | Starting at ₹85,000 |
What is a Whole Exome Sequencing-Trios Test?
The Whole Exome Sequencing-Trios test is an advanced genetic test that reads the protein-coding regions of approximately 20,000 genes in the human genome. It analyses samples from three individuals together: the affected child (called the proband) and both biological parents. This trio approach helps doctors determine whether a genetic variant is newly arisen in the child or inherited from a parent. The test is also known as WES Trio or Trio WES.
What Does a Whole Exome Sequencing-Trios Test Measure?
This test uses next-generation sequencing (NGS) to examine the exome, which is the part of the genome that codes for proteins. By comparing the child's DNA with both parents', the laboratory can classify any variants found. The table below outlines what the test analyses:
| What Is Analysed | What It Means |
|---|---|
| Single Nucleotide Variants (SNVs) | Changes in individual DNA letters within a gene |
| Insertions and Deletions (Indels) | Small additions or removals of DNA segments |
| Copy Number Variants (CNVs) | Larger deletions or duplications of DNA segments (typically three exons or more) |
| De novo variants | New mutations in the child not inherited from either parent |
| Inherited variants | Mutations passed from one or both parents, helping establish inheritance patterns |
Why is a Whole Exome Sequencing-Trios Test Done?
Doctors order this test when a child shows unexplained symptoms that may point to an underlying genetic condition. Analysing all three family members together increases the likelihood of finding a meaningful answer.
Common Symptoms That May Require This Test
The following symptoms are among the most common reasons a doctor may recommend this test:
- Global developmental delay or intellectual disability
- Unexplained seizures or epilepsy
- Multiple congenital anomalies (birth defects present at birth)
- Autism spectrum disorder features
- Unusual facial or physical features (dysmorphic features)
- Failure to thrive or poor growth without a clear cause
- Brain malformations or neuromuscular problems
Conditions This Test Can Help Detect
The Whole Exome Sequencing-Trios test can help identify several types of rare and complex conditions, including:
- Rare single-gene (Mendelian) disorders
- Neurodevelopmental disorders, such as intellectual disability and developmental delay
- Congenital anomalies and birth defect syndromes
- Metabolic disorders
- Mitochondrial disorders (when combined with mitochondrial genome sequencing)
How to Prepare and What to Expect
No special preparation is needed for this test. However, a few practical steps will help ensure the process goes smoothly for the whole family.
Do You Need to Fast?
No. Fasting is not required before the Whole Exome Sequencing-Trios test. You and both parents can eat and drink as usual before sample collection.
Practical Tips Before Your Test
The following steps will help you get ready for the test:
- Bring a detailed clinical history, including symptoms, previous test results, and family history, as this is required for the test to be processed.
- Arrange for both biological parents to be available for sample collection at the same time.
- Discuss any current medications or supplements with your doctor before testing.
- Pre-test genetic counselling is strongly recommended. A genetic counsellor can explain the benefits, limitations, and possible findings before you proceed.
- Ensure all required consent forms and clinical documentation are ready before your appointment, as samples cannot be processed without them.
Step-by-Step Procedure
This test requires a CVS (chorionic villus) sample. Here is what to expect during the collection visit:
- You arrive at the Lupin Diagnostics centre at your scheduled appointment time with all three family members (proband and both biological parents) and your clinical documentation.
- The collecting specialist explains the procedure and confirms that consent forms and clinical history documents are complete.
- The CVS sample is collected from the relevant individual in a sterile container. Parental samples are collected using standard blood draws or another accepted method as directed by the specialist.
- Each sample is labelled carefully and stored at the required refrigeration temperature (2 to 8 degrees Celsius) to maintain integrity during transit.
- All three samples are dispatched together to the laboratory on the same day for DNA extraction and NGS Whole Exome Sequencing-Trios analysis.
- The laboratory processes the samples and returns a full report within 35 days.
Factors That Can Affect Accuracy
Several factors can influence how reliable the results are:
- Poor sample quality or insufficient DNA quantity
- Absence of one or both parental samples (reduces diagnostic accuracy)
- Regions of the genome not covered by exome sequencing (intronic or regulatory regions)
- Blood transfusions or bone marrow transplantation prior to testing
- Somatic mosaicism (where only some cells carry the variant)
- Rare variants about which limited published data exists
Understanding Your Whole Exome Sequencing-Trios Test Results
The Whole Exome Sequencing-Trios test is a qualitative genetic test, not a numerical one. Results are not reported as high or low values. Instead, variants identified are classified according to American College of Medical Genetics and Genomics (ACMG) guidelines and reported with interpretive comments.
| Finding Category | What It Means |
|---|---|
| Pathogenic variant | A known disease-causing variant has been identified |
| Likely pathogenic variant | A variant strongly suspected to cause disease |
| Variant of uncertain significance (VUS) | A variant whose clinical importance is currently unknown |
| Likely benign variant | A variant unlikely to cause disease |
| Negative / No reportable variants | No disease-causing variants detected in the regions analysed |
Based on published studies, a genetic diagnosis is identified through trio-based Whole Exome Sequencing in approximately 25% to 46% of cases, depending on the clinical indication. A negative result does not completely rule out a genetic cause, as some variants may lie in regions not covered by this test.
Disclaimer: These categories are general guidelines. Your doctor will interpret your results based on your child's age, clinical presentation, family history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
How to Maintain Healthy Levels
As this is a diagnostic genetic test rather than a health-monitoring test, "healthy levels" do not apply in the usual sense. The following general steps are helpful after testing:
- If a genetic diagnosis is made, work with a genetic counsellor to understand what the finding means for your child and other family members.
- Genetic counselling after testing can guide reproductive planning if you are considering future pregnancies.
- Connect with specialist support services or patient advocacy groups relevant to the diagnosed condition for ongoing guidance.
Lupin Diagnostics Whole Exome Sequencing-Trios Test Price
The Whole Exome Sequencing-Trios test cost starts at ₹85,000 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| CHENNAI | 85000 |
| HYDERABAD | 85000 |
| KOLKATA | 85000 |
| NAVI MUMBAI | 85000 |
| PUNE | 85000 |
| BHUBANESHWAR | 85000 |
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-Trios test online or in person:
- 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. Ensure all three family members (proband and both parents) attend together.
- Receive your report via email or WhatsApp within 35 days.
Frequently Asked Questions
In single-person testing, only the affected child's DNA is analysed. Trio testing adds both parents' DNA, which helps the laboratory determine whether a variant is newly arisen in the child (de novo) or inherited. Studies show that trio testing increases diagnostic yield by 7 to 15% compared to proband-only testing.
At Lupin Diagnostics, the report is delivered within 35 days. This timeline reflects the complexity of analysing three full exomes and interpreting variants against published databases. In urgent clinical situations, ask your doctor whether any expedited options are available.
Both parental samples are strongly preferred. If one parent is unavailable, testing can still proceed, but diagnostic accuracy may be reduced. In some cases, samples from siblings or other close relatives may be accepted as a substitute. Discuss this with your doctor or genetic counsellor before booking.
No. The WES Trio test does not reliably detect chromosomal rearrangements or inversions that do not change the number of DNA copies, repeat expansion disorders, or low-level mosaicism (where only a small proportion of cells carry the variant). Your doctor may recommend additional tests if these conditions are suspected.
Pre-test genetic counselling is strongly recommended. A counsellor will explain the potential outcomes, including variants of uncertain significance and the possibility of incidental findings in genes unrelated to the primary concern. Post-test counselling is equally important for understanding the results and planning next steps.
During the Whole Exome Sequencing-Trios test, the laboratory may identify variants in genes linked to other health conditions that were not the original reason for testing. These are called secondary or incidental findings. ACMG guidelines recommend reporting variants in 81 specific genes where medical action is possible. You can choose to opt out of receiving these findings before the test begins.
Whole Exome Sequencing-Trios Test: Booking, Price, and Results
