Clinical Exome Analysis Test: Booking, Price, and Results
About Clinical Exome Analysis Test
| Field | Value |
|---|---|
| Also Known As | Clinical exome sequencing (CES), Clinical whole exome sequencing, Clinical-grade exome test |
| Sample Type | Peripheral blood (EDTA tube), buccal swab/saliva, chorionic villus sampling (CVS), amniotic fluid, skin biopsy/fibroblast culture |
| Fasting Required | No fasting required |
| Report Time | 35 days |
| Recommended For | All ages and genders; particularly those with suspected genetic disorders, developmental delay, or unexplained symptoms |
| Price | Starting at ₹23,000 |
What is a Clinical Exome Analysis Test?
The clinical exome analysis test is a specialised DNA test that examines the protein-coding regions of roughly 7,000 known disease-associated genes. Doctors prescribe it when a patient has symptoms suggesting an underlying genetic cause that routine tests cannot explain. It is also called Clinical exome sequencing (CES) or a clinical-grade exome test. A chorionic villus (CVS) sample is used for analysis, and results are processed using Next Generation Sequencing (NGS) technology.
What Does a Clinical Exome Analysis Test Measure?
The clinical exome analysis test examines the coding sections of your DNA, where most disease-causing mutations are found. The table below summarises what the test looks for.
| Component | What It Means |
|---|---|
| Single nucleotide variants (SNVs) | Single-letter changes in the DNA code that may cause disease |
| Insertions and deletions (InDels) | Small pieces of DNA that are added or removed from a gene |
| Copy number variations (CNVs) | Larger segments of DNA that are duplicated or missing |
| Disease-associated genes | Around 7,000 clinically relevant genes drawn from databases such as OMIM, HGMD, and ClinVar |
Why is a Clinical Exome Analysis Test Done?
This test is ordered when a patient's symptoms point to a genetic condition but a clear diagnosis has not yet been reached. Below are the situations in which a doctor may recommend it.
Common Symptoms That May Require This Test
Several symptoms may prompt a doctor to request a clinical exome analysis test. These include:
- Unexplained developmental delay or intellectual disability
- Seizures with no identified cause
- Multiple congenital anomalies (birth defects present from birth)
- Low muscle tone (hypotonia) or unexplained muscle weakness
- Distinctive facial features associated with genetic syndromes
- Failure to thrive in infants or young children
- Complex symptoms that do not fit a single known diagnosis
Conditions This Test Can Help Detect
The clinical exome sequencing test can assist in identifying a range of serious genetic conditions, including:
- Inborn errors of metabolism, such as mitochondrial diseases and lysosomal storage diseases
- Neurodevelopmental disorders affecting brain development and function
- Neurological conditions affecting the nervous system
- Hereditary cancer syndromes, which are inherited conditions that raise cancer risk
- Rare genetic disorders that have remained undiagnosed after standard testing
How to Prepare and What to Expect
Preparing correctly helps ensure the sample is suitable for analysis and that the laboratory has the information it needs to interpret your results accurately.
Do You Need to Fast?
No fasting is required before a clinical exome analysis test. You may eat and drink normally before sample collection.
Practical Tips Before Your Test
- Bring a detailed clinical history including your symptoms, previous test results, and family history, as this is required for the test
- Carry your doctor's prescription or referral letter at the time of collection
- Inform the healthcare professional about any recent blood transfusions or bone marrow transplants, as these can affect results
- Pre-test genetic counselling is strongly recommended so you understand what the test can and cannot detect
- Provide information about any family members with known genetic conditions
Step-by-Step Procedure
This test may use different sample types depending on the clinical indication. Home collection may be available for peripheral blood or saliva samples. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision. Genetic counselling may be recommended before and after testing.
Peripheral Blood (most common):
- A trained phlebotomist cleans a vein, usually in the arm, with an antiseptic swab.
- A small amount of blood (3 ml) is drawn into a lavender-top EDTA tube.
- The sample is labelled with your details and the date of collection.
- It is stored at 2 to 8 degrees Celsius and transported to the laboratory.
- DNA is extracted and analysed using next-generation sequencing (NGS) technology.
Results are typically available within 35 days.
Buccal Swab/Saliva Collection
- A healthcare professional or trained staff member collects the sample.
- For a buccal swab, a soft swab is gently rubbed inside the cheek to collect cells.
- For saliva collection, the patient provides a saliva sample in a sterile container.
- The sample is labelled and sent to the laboratory.
- DNA is extracted and analysed and results are typically available within 35 days.
Chorionic Villus Sample (CVS) or Amniotic Fluid (when required):
- This sample is collected by a specialist doctor in a clinical setting.
- For CVS, a small amount of placental tissue (30 mg) is taken using a fine needle or catheter.
- For amniotic fluid, a sample (20 ml) is collected via a procedure called amniocentesis.
- The sample is placed in a sterile container or Falcon tube and labelled.
- It is refrigerated at 2 to 8 degrees Celsius and sent to the laboratory promptly.
- DNA is extracted and sequenced; results are available within 35 days.
Skin Biopsy/Fibroblast Culture Collection
- This sample is collected by a trained healthcare professional in a clinical setting.
- The skin over the collection site is cleaned with an antiseptic solution.
- A small skin sample is collected under local anaesthesia using a sterile instrument.
- The sample is placed in a sterile container with specialised transport medium.
- Fibroblast cells are cultured in the laboratory before DNA extraction and analysis.
Results are typically available within 35 days.
Factors That Can Affect Accuracy
Certain factors may influence the reliability of your results. These include:
- Poor sample quality or insufficient sample volume
- Low depth of sequencing coverage
- Incomplete or missing clinical history submitted with the sample
- Recent bone marrow transplant or blood transfusion, which introduces donor DNA
- Genetic changes that fall outside the regions covered by this test (such as repeat expansions or very low-level mosaicism)
Understanding Your Clinical Exome Analysis Test Results
Results from this test are not reported as numbers. Instead, each variant found is classified into one of five categories. Your doctor or genetic counsellor will explain what each finding means for you personally.
| Finding Type | What it Means |
|---|---|
| Pathogenic variant | A disease-causing mutation has been identified |
| Likely pathogenic variant | The variant is highly likely to cause disease |
| Variant of uncertain significance (VUS) | The clinical significance of this variant is unclear and requires further evaluation |
| Likely benign variant | The variant is unlikely to cause disease |
| Benign variant | A normal genetic variation with no disease association |
These ranges 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
Certain medical circumstances can affect the accuracy of your clinical exome analysis results. A recent bone marrow transplant or blood transfusion may introduce donor DNA into your sample, which can produce misleading findings. If you have had either procedure, inform your doctor before the test. An alternative sample type, such as a buccal swab or skin biopsy, may be recommended instead.
How to Maintain Healthy Levels
Because this is a genetic test rather than a biochemical one, lifestyle changes cannot alter your DNA results. However, the following steps support informed decision-making after testing:
- Attend post-test genetic counselling to understand your results and their implications for you and your family
- Share relevant findings with close family members who may benefit from knowing about inherited conditions
- Follow up with the appropriate specialist, such as a neurologist, metabolic specialist, or oncologist, based on what the results reveal
Lupin Diagnostics Clinical Exome Analysis Test Price and Home Collection
The clinical exome analysis test is available at Lupin Diagnostics starting at ₹23,000. Home collection may be available for eligible sample types such as peripheral blood or saliva. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 23000 |
| CHENNAI | 23000 |
| HYDERABAD | 23000 |
| KOLKATA | 23000 |
| NAVI MUMBAI | 23000 |
| PUNE | 23000 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Home collection may be available for eligible sample types such as peripheral blood or saliva. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Lupin Diagnostics offers home collection for eligible sample types across multiple cities. Specialised prenatal samples such as CVS or amniotic fluid require collection at authorised healthcare facilities. All samples are processed in NABL-accredited laboratories by experienced specialists. Digital reports are shared via email or WhatsApp once ready.
Frequently Asked Questions
The clinical exome analysis test focuses on approximately 7,000 known disease-associated genes, making it more targeted and cost-effective. Whole exome sequencing covers all 20,000 or more human genes, including many whose clinical relevance is not yet established. For most diagnostic situations, clinical exome sequencing offers comparable results at a lower cost.
Results are typically delivered within 35 days. The timeline reflects the complexity of sequencing, bioinformatics processing, and expert variant interpretation involved in producing an accurate report.
No. The clinical exome analysis test does not detect all types of genetic variants. It cannot reliably identify very low-level mosaicism (when only a small proportion of cells carry a mutation), large structural rearrangements, or trinucleotide repeat expansions. A negative result does not completely exclude a genetic diagnosis.
Genetic counselling is strongly recommended both before and after testing. Pre-test counselling helps you understand what the test can detect and what a result may mean. Post-test counselling guides you through the findings and helps plan appropriate next steps for you and your family.
Secondary findings are variants discovered in genes unrelated to the original reason for testing. For example, a test ordered for a neurological condition may identify a variant linked to a hereditary cancer syndrome. Guidelines from the American College of Medical Genetics and Genomics (ACMG) recommend reporting variants in around 73 to 81 specific genes. Patients may choose to opt out of receiving these findings.
A variant of uncertain significance means that a change in your DNA has been found, but there is currently not enough evidence to confirm whether it causes disease. A VUS is not a diagnosis. Your doctor or genetic counsellor will advise whether further testing or monitoring is appropriate.
Visit the Lupin Diagnostics website, search for the clinical exome analysis test, select your city, and choose a convenient appointment slot. You can also call Lupin Diagnostics directly to confirm availability and discuss sample collection requirements before booking.
Clinical Exome Analysis Test: Booking, Price, and Results
