Clinical Exome Sequencing (4 GB Data, 200X Coverage): Booking, Price, and Results
About Clinical Exome Sequencing (4 GB Data, 200X Coverage): Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | CES, Clinical exome test, Whole exome sequencing (WES), Diagnostic exome sequencing |
| Sample Type | Peripheral blood (EDTA), Chorionic Villus Sampling (CVS), amniotic fluid, cord blood. |
| Fasting Required | No fasting required |
| Report Time | 35 days |
| Recommended For | All age groups, including pediatric and prenatal cases; individuals with suspected genetic disorders, developmental delays, congenital anomalies, recurrent pregnancy loss, or undiagnosed conditions. |
| Price | Starting at ₹22,000 |
What is a Clinical Exome Sequencing (4 GB Data, 200X Coverage)?
A clinical exome sequencing test analyses the protein-coding regions of a person's DNA, known as the exome. These regions make up only 1 to 2% of the entire genome but contain the majority of currently known disease-causing genetic changes. The test is typically ordered when a person has unexplained symptoms that may have a genetic cause, such as developmental delay, seizures, or rare congenital conditions. It is also recommended in pediatric patients with suspected inherited disorders and in prenatal cases where fetal genetic abnormalities or congenital anomalies are suspected. It may also be referred to as CES, Diagnostic Exome Sequencing, or Whole Exome Sequencing (WES).
What Does a Clinical Exome Sequencing (4 GB Data, 200X Coverage) Measure?
The clinical exome sequencing (4 GB data, 200X coverage) test scans the coding regions of genes to look for changes that may be causing illness. The high coverage depth of 200X ensures that even subtle genetic changes are less likely to be missed.
The test identifies the following types of genetic changes:
- Single-nucleotide variants (SNVs): Single-letter changes in the DNA code that may be linked to disease
- Small insertions and deletions (InDels): Tiny additions or losses of genetic material within a gene
- Copy number variants (CNVs): Larger duplications or deletions of DNA segments that can disrupt normal gene function
- Splice-site variants: Changes near the boundaries between coding and non-coding DNA that affect how genes are read and processed
Why is a Clinical Exome Sequencing (4 GB Data, 200X Coverage) Done?
Doctors recommend this test when a patient has symptoms that suggest a genetic cause but remain unexplained after standard investigations. It is particularly useful for rare or undiagnosed conditions.
Common Symptoms That May Require This Test
- Global developmental delay (delayed milestones in children)
- Intellectual disability
- Seizures or unexplained epilepsy
- Dysmorphic facial features (unusual physical characteristics)
- Muscular hypotonia (low or weak muscle tone)
- Abnormal metabolism detected through other tests
- Autistic behaviour or autism spectrum disorder
- Congenital anomalies or multiple birth defects
- Suspected genetic hearing loss or vision abnormalities
- Family history of inherited or rare genetic disorders
- Recurrent pregnancy loss or a previous child with a genetic disorder
- Abnormal prenatal ultrasound findings suggestive of fetal anomalies
Conditions This Test Can Help Detect
This test can help identify a range of rare and inherited conditions, including:
- Neurodevelopmental disorders and intellectual disability
- Congenital anomalies (birth defects present from birth)
- Epilepsy and seizure disorders
- Inherited metabolic disorders
- Hereditary cardiomyopathies (inherited heart muscle diseases)
- Skeletal dysplasias (disorders affecting bone development)
- Hereditary cancer predisposition conditions
Clinical Exome Sequencing (4 GB Data, 200X Coverage) During Pregnancy
Exome sequencing on fetal samples may be considered when an ultrasound detects structural anomalies and standard chromosomal investigations, such as karyotyping or microarray analysis, have not provided a clear diagnosis. Around 2 to 4% of pregnancies involve significant fetal structural anomalies, and genetic counselling is recommended for all such cases. This test is performed on fetal samples, such as chorionic villus samples, and is not a routine screening test for pregnant women.
How to Prepare and What to Expect
This test involves the collection of peripheral blood, chorionic villus sampling (CVS), amniotic fluid, saliva/buccal swab, or other appropriate tissue samples, depending on the clinical indication and patient category. The steps below explain what to expect before and during the procedure.
Do You Need to Fast?
No fasting is required before this test. You may eat and drink normally on the day of your appointment.
Practical Tips Before Your Test
Being well prepared helps the laboratory deliver the most accurate result possible. Keep the following in mind:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- If available, ask both biological parents to provide samples, as trio testing (patient and both parents) can increase the likelihood of a definitive result
- Review and sign the informed consent form before the procedure
- Speak with a genetic counsellor before undergoing the test to understand what the possible outcomes may mean for you and your family
- Inform your doctor of any recent blood transfusions or bone marrow transplants, as these can affect results
Step-by-Step Procedure
Multiple sample types may be collected depending on your clinical situation. Below is the collection procedure for each sample type.
Peripheral Blood
- A trained phlebotomist cleans the skin over a vein in your arm.
- A small needle is used to draw 3 ml of blood into an EDTA (lavender-top) tube.
- The sample is labelled and stored between 2°C and 8°C for transport.
Chorionic Villus (CVS)
- A doctor collects approximately 30 mg of chorionic villus tissue using a specialist procedure.
- The sample is placed in a sterile container and kept refrigerated (2°C to 8°C).
Amniotic Fluid
- A doctor collects 20 ml of amniotic fluid using a clinical procedure.
- The sample is transferred to a Falcon tube and stored at the correct temperature for dispatch.
Cord Blood
- Cord blood (3 ml) is collected at delivery into an EDTA tube.
- The sample is kept refrigerated and dispatched promptly.
Once received, the laboratory extracts DNA, captures the exome using molecular probes, sequences the DNA using NGS technology, and analyses the data using bioinformatics tools.
Factors That Can Affect Accuracy
- Quality and quantity of the DNA sample collected
- Absence of parental samples (trio analysis improves diagnostic yield)
- Incomplete or missing clinical history
- Recent blood transfusion or bone marrow transplant
- Certain genetic conditions involving repeat expansions or mitochondrial DNA, which this test is not designed to detect
Understanding Your Clinical Exome Sequencing (4 GB Data, 200X Coverage) Results
Results from a clinical exome sequencing test are not expressed as numerical values. Instead, each identified genetic variant is classified according to guidelines published by the American College of Medical Genetics and Genomics (ACMG). Your doctor or genetic counsellor will explain what the findings mean for you.
| Classification | Meaning |
|---|---|
| Pathogenic | A known disease-causing variant has been identified that explains the symptoms |
| Likely Pathogenic | The variant is highly likely to cause disease based on current evidence |
| Variant of Uncertain Significance (VUS) | A change has been found, but its connection to disease is not yet clear |
| Likely Benign | The variant is unlikely to cause disease |
| Benign | No disease-causing variant was identified based on current knowledge |
These classifications are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Patients who have had a recent blood transfusion or bone marrow transplant should inform their doctor before testing, as these procedures can interfere with DNA sequencing and may produce misleading results. Additionally, this test is not designed to detect nucleotide repeat expansions, mitochondrial DNA variants, low-level mosaicism (where only some cells carry a genetic change), or small exonic deletions and duplications in pseudogenes and repetitive genomic regions.
How to Maintain Healthy Levels
Because this is a genetic test, "healthy levels" do not apply in the traditional sense. However, the following steps are important after receiving results:
- Seek genetic counselling to fully understand what your results mean for you and your family
- If a pathogenic variant is identified, other family members may benefit from targeted testing
- Attend follow-up appointments with relevant specialists as recommended based on your diagnosis
Clinical Exome Sequencing (4 GB Data, 200X Coverage) Price and Home Collection
The clinical exome sequencing test cost at Lupin Diagnostics starts at ₹22,000. Sample collection requirements may vary depending on the sample type and clinical indication. Certain samples, such as blood, may be eligible for home collection, while specialised prenatal samples, such as CVS or amniotic fluid, require collection by a trained specialist at a healthcare facility. Pricing may vary by city.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 33000 |
| CHENNAI | 33000 |
| HYDERABAD | 33000 |
| KOLKATA | 33000 |
| NAVI MUMBAI | 22000 |
| PUNE | 33000 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
The clinical exome sequencing test online booking process at Lupin Diagnostics is straightforward:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Depending on the required sample type, sample collection may be arranged via home collection (for eligible samples such as blood) or scheduled at a Lupin Diagnostics centre/healthcare facility for specialised collections, such as CVS or amniotic fluid.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Lupin Diagnostics offers home collection for eligible sample types used in clinical exome sequencing testing, such as peripheral blood samples, across multiple cities. Certain specialised prenatal samples, including CVS and amniotic fluid, must be collected by trained specialists at an authorised healthcare facility. All samples are processed in NABL-accredited laboratories by experienced clinical geneticists, and digital reports are shared directly as soon as they are ready.
Frequently Asked Questions
Whole-exome sequencing covers all known protein-coding genes, approximately 20,000 in total. Clinical exome sequencing focuses on a curated set of genes known to be linked with disease, typically around 7,000 to 10,000 genes. The clinical exome sequencing test is particularly useful when a genetic disorder is suspected, as it targets the most clinically relevant regions.
Results from the clinical exome sequencing (4 GB data, 200X coverage) test are delivered within 35 days. This turnaround time reflects the detailed analysis required, including sequencing, data alignment, variant identification, and clinical review by a geneticist.
A negative result means that no disease-causing genetic variant was found in the regions examined. This does not completely rule out a genetic cause. The causative change may lie outside the exome, in non-coding regions, or may involve variant types that this test is not designed to detect.
A VUS is a genetic change that has been detected but cannot yet be clearly linked to disease or ruled out as harmless. VUS findings should not be used for clinical decision-making until further evidence allows them to be reclassified as pathogenic or benign.
Yes. Providing samples from both biological parents, along with the patient's sample, is strongly encouraged. Trio testing improves the ability to interpret variants and has been shown to increase diagnostic yield to approximately 25-37% of cases. Speak with your doctor about arranging parental samples at the time of booking.
This test is not designed to detect nucleotide repeat expansions, mitochondrial DNA variants, low-level mosaicism, or certain exonic copy number variants in repetitive genomic regions. If these conditions are suspected, your doctor may recommend additional or alternative tests.
Yes. Genetic counselling before the test helps you understand the possible outcomes and what they may mean for you and your family. After the test, a genetic counsellor can help interpret the results and guide next steps, including whether other family members should be tested.
Clinical Exome Sequencing (4 GB Data, 200X Coverage): Booking, Price, and Results
