Complete Inherited Disease Panel Test
About Complete Inherited Disease Panel Test
| Field | Value |
|---|---|
| Also Known As | Comprehensive Genetic Panel Test, Inherited Disease Carrier Panel, Expanded Carrier Screening Panel, Hereditary Disease Gene Panel |
| Sample Type | Chorionic Villus (CVS), Amniotic Fluid, Peripheral Blood, Cord Blood |
| Fasting Required | No fasting required |
| Report Time | 30 days |
| Recommended For | Adults of all genders; couples planning pregnancy, individuals with a family history of genetic disorders, and consanguineous couples |
| Price | Starting at ₹24,000 |
What is a Complete Inherited Disease Panel Test?
The Complete Inherited Disease Panel Test uses Next-Generation Sequencing (NGS) technology to examine multiple genes at once for harmful variants linked to inherited conditions. It is also known as the Comprehensive Genetic Panel Test or Expanded Carrier Screening Panel. Doctors typically prescribe it to couples planning a pregnancy, individuals with a family history of genetic disease, or those undergoing assisted reproduction. Samples collected may include chorionic villus (CVS), amniotic fluid, peripheral blood, or cord blood, depending on clinical need.
What Does a Complete Inherited Disease Panel Test Measure?
The test analyses DNA extracted from the collected sample to identify changes in genes that may cause or increase the risk of inherited disease. It looks for the following types of genetic variants.
| Variant Type | What it Means |
|---|---|
| Single-nucleotide variants (SNVs) | A single change in one base pair of DNA may disrupt normal gene function |
| Insertions or deletions (INDELs) | Small additions or removals of genetic material that can alter how a gene works |
| Copy number variants (CNVs) | Larger sections of DNA that are duplicated or deleted |
Results are classified using a five-tier system: pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, and benign.
Why is a Complete Inherited Disease Panel Test Done?
This test is ordered for a range of clinical reasons, from preconception planning to diagnosing unexplained symptoms in a child.
Common Symptoms That May Require This Test
The following indications are listed in order of how commonly they prompt a referral for this test.
- Family history of a known genetic disorder
- Planning a pregnancy, particularly after a previous child with a genetic condition
- Consanguineous marriage (marriage between close relatives)
- Recurrent pregnancy loss with no identified cause
- Undergoing IVF or other assisted reproductive treatment
- Unexplained developmental delay or intellectual disability in the family
- Suspected haemoglobin disorder such as thalassaemia or sickle cell anaemia
Conditions This Test Can Help Detect
The panel covers a wide range of inherited disorders. Some of the more commonly screened conditions include:
- Beta thalassaemia and alpha thalassaemia (reduced or abnormal haemoglobin production)
- Sickle cell anaemia (a condition where red blood cells take an abnormal shape)
- Cystic fibrosis (affects the lungs and digestive system)
- Spinal muscular atrophy (SMA), a condition causing progressive muscle weakness
- Duchenne muscular dystrophy and haemophilia A and B
- G6PD deficiency (an enzyme deficiency that affects red blood cells)
- Metabolic disorders, inherited cardiac conditions, and hearing loss genes
Complete Inherited Disease Panel Test During Pregnancy
International guidelines recommend that all individuals considering pregnancy or already pregnant be offered carrier screening for conditions such as cystic fibrosis, spinal muscular atrophy, thalassaemias, and haemoglobinopathies. Ideally, the Complete Inherited Disease Panel Test is performed before conception, giving couples time to understand their carrier status and explore their options with a genetic counsellor. When performed prenatally, samples such as CVS or amniotic fluid may be used to assess the foetus directly.
How to Prepare and What to Expect
Preparing for this test is straightforward. The key requirement is bringing complete clinical documentation.
Do You Need to Fast?
No fasting is needed before this test. Food and drink do not affect DNA and will not change your results. You may eat and drink normally on the day of sample collection.
Practical Tips Before Your Test
The following steps will help ensure a smooth collection visit.
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Carry a valid doctor's prescription or referral, as this test can only be ordered by a registered physician
- Inform the collection staff of any recent blood transfusions, as donor DNA in the bloodstream may affect results
- Disclose any prior bone marrow or stem cell transplant
- Stay well hydrated before your appointment for an easier blood draw
- Consider booking a pre-test genetic counselling session to understand what the results may mean
Step-by-Step Procedure
The collection process varies slightly depending on the sample type your doctor has requested. Below is an overview of each.
For Peripheral Blood or Cord Blood:
- The healthcare professional verifies your identity, prescription, and clinical history
- Your arm is cleaned with an antiseptic solution
- A small blood sample (3 ml) is collected from a vein into an EDTA (lavender-top) tube to preserve DNA
- The labelled sample is stored at 2 to 8 degrees Celsius and dispatched to the laboratory
- The sample undergoes NGS analysis over approximately 30 days
For Chorionic Villus (CVS):
- Your doctor performs the CVS procedure in a clinical setting under ultrasound guidance
- A small tissue sample (30 mg) is collected and placed in a sterile container
- The sample is refrigerated at 2 to 8 degrees Celsius and transported to the lab promptly
- NGS analysis is carried out, with results ready in approximately 30 days
For Amniotic Fluid:
- Your doctor performs an amniocentesis procedure in a clinical setting
- A fluid sample (20 ml) is collected via a thin needle into a Falcon tube
- The sample is refrigerated and dispatched to the laboratory on the same day
- NGS processing and reporting take approximately 30 days
Factors That Can Affect Accuracy
Certain factors may influence the quality of results.
- Recent blood transfusion or bone marrow transplant (donor DNA may interfere)
- Poor DNA quality or insufficient sample volume
- Genetic variants in regions of the genome that are difficult to sequence accurately (such as low-mappability or high-repeat regions)
- Not providing a complete clinical history, which may delay or limit the interpretation
Understanding Your Complete Inherited Disease Panel Test Results
Results are reported using standard ACMG-AMP classification guidelines. Your doctor or genetic counsellor will explain what each classification means for you and your family.
| Classification | Meaning |
|---|---|
| Pathogenic | A disease-causing variant has been identified |
| Likely pathogenic | The variant is very probably disease-causing |
| Variant of uncertain significance (VUS) | Clinical impact is unclear; further follow-up may be needed |
| Likely benign | The variant is unlikely to cause disease |
| Benign | No disease association found |
Disclaimer: 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 situations can affect how results are interpreted.
- A recent blood transfusion may introduce donor DNA into the sample, potentially affecting the accuracy of the genetic findings.
- A prior bone marrow or stem cell transplant may cause results to reflect the donor's genetics rather than your own, which should be disclosed before testing.
How to Maintain Healthy Levels
Because this test looks for genetic variants present from birth, lifestyle changes cannot alter your carrier status. However, these steps support your overall reproductive health planning.
- If identified as a carrier, seek genetic counselling before planning a pregnancy to understand the risk to your children
- Partner testing is recommended when one individual tests positive as a carrier, to assess the combined reproductive risk
- Keep your family medical history updated and share it with your doctor at each consultation
Lupin Diagnostics Complete Inherited Disease Panel Test Price
The Complete Inherited Disease Panel Test is priced starting at ₹24,000 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available due to the specialised sample types and clinical procedures involved.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 24000 |
| CHENNAI | 24000 |
| HYDERABAD | 24000 |
| KOLKATA | 24000 |
| NAVI MUMBAI | 24000 |
| PUNE | 24000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
- Select the Complete Inherited Disease Panel 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 30 days.
Frequently Asked Questions
It is a genetic screening test that examines multiple genes at the same time using NGS technology. The goal is to identify whether a person carries variants linked to inherited diseases that could be passed on to their children. Results help couples make informed reproductive decisions.
This test is recommended for couples planning a pregnancy, individuals with a family history of genetic conditions, couples who are closely related, those who have had a previous child with a genetic disorder, and individuals undergoing IVF. A doctor or genetic counsellor can advise whether the Complete Inherited Disease Panel Test is appropriate for your situation.
No fasting is required. Your diet does not affect DNA, so you can eat and drink normally before your appointment. The most important preparation step is bringing your clinical history documentation.
Results from this test are typically ready in 30 days. NGS analysis is a detailed process that requires significant laboratory time to ensure accuracy. Your doctor or genetic counsellor will contact you once the report is available.
A positive result means a variant associated with a specific condition has been found in your genes. Carriers are usually healthy and do not show symptoms of the condition themselves. However, if both partners are carriers of the same condition, there is a 25% chance with each pregnancy that the child may be affected. Partner testing and genetic counselling are the recommended next steps.
No test can identify every possible genetic variant. This panel screens for specific genes and known variants within them. A negative result significantly reduces but does not completely eliminate the possibility of carrying a relevant genetic change. Your doctor will explain the residual risk in the context of your family history.
Genetic counselling is strongly recommended both before and after the Complete Inherited Disease Panel Test. A genetic counsellor helps you understand what the test covers, what a result may mean for your family, and what options are available to you. Pre-test counselling also ensures you have realistic expectations about what the results can and cannot tell you.
Complete Inherited Disease Panel Test
