Beta Thalassemia-HBB Deletion/Duplication Analysis Test: Booking, Price, and Results
About Beta Thalassemia-HBB Deletion/Duplication Analysis Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | HBB Deletion/Duplication Analysis, Beta-Globin Gene MLPA Test, HBB MLPA, Beta-Thalassaemia Deletion/Duplication Test |
| Sample Type | Chorionic villus (CVS), amniotic fluid, or peripheral blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 15 days |
| Recommended For | All genders and ages; individuals with suspected or confirmed beta-thalassaemia, carriers, and couples from high-risk populations planning pregnancy |
| Price | Starting at ₹11,880 |
What is a Beta Thalassemia-HBB Deletion/Duplication Analysis Test?
The Beta Thalassemia-HBB Deletion/Duplication Analysis test is a specialised genetic test that looks for missing or extra copies of the HBB gene, which carries the instructions for making beta-globin, a key component of haemoglobin. It is prescribed for individuals suspected of having beta-thalassaemia or a related blood disorder, as well as for couples planning pregnancy who may be carriers. Also known as the HBB MLPA or Beta-Globin Gene MLPA Test, it uses a method called Multiplex Ligation-dependent Probe Amplification (MLPA) to analyse the gene with high accuracy.
What Does a Beta Thalassemia-HBB Deletion/Duplication Analysis Test Measure?
This test analyses the HBB gene for structural changes that affect how haemoglobin is produced. The following parameters are examined:
| Parameter | What it Assesses |
|---|---|
| HBB gene deletions | Identifies missing segments of the HBB gene linked to beta-thalassaemia and related conditions |
| HBB gene duplications | Detects extra copies of the gene or specific sections that may influence disease severity |
| Copy number variations (CNVs) | Identifies known variations in the number of gene copies, which are reliably detected by MLPA |
Results are reported as qualitative findings: "deletion detected," "duplication detected," or "no deletion/duplication detected."
Why is a Beta Thalassemia-HBB Deletion/Duplication Analysis Test Done?
This test is ordered when there is a clinical or family history of beta-thalassaemia, or when standard gene sequencing has not identified a clear cause. It is also used during pregnancy planning and prenatal diagnosis.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to order a Beta Thalassemia-HBB Deletion/Duplication Analysis test:
- Persistent tiredness or fatigue without a clear cause
- Yellowing of the skin or eyes (jaundice)
- Changes in facial bone structure
- Slow growth or delayed development in children
- Swelling in the abdominal area
- Dark-coloured urine
- Poor appetite over an extended period
Conditions This Test Can Help Detect
This test can help identify several genetic and haematological conditions:
- Beta-thalassaemia major (also called Cooley's anaemia or transfusion-dependent thalassaemia)
- Beta-thalassaemia intermedia (a less severe, non-transfusion-dependent form)
- Hereditary persistence of foetal haemoglobin (HPFH) and delta beta-thalassaemia
- Gene fusion haemoglobin variants, such as haemoglobin Lepore
- Carrier status in individuals who tested negative on standard HBB gene sequencing
Beta Thalassemia-HBB Deletion/Duplication Analysis Test During Pregnancy
This test is recommended for couples planning pregnancy, particularly those from populations with a higher risk of haemoglobinopathies, including South Asian, Mediterranean, and African ancestry. If both partners are found to be carriers, prenatal diagnosis can be carried out through chorionic villus sampling (CVS) or amniocentesis. The test helps assess the risk of an affected pregnancy and supports informed decision-making with the guidance of a genetic counsellor.
How to Prepare and What to Expect
No special preparation is needed before this test, but there are a few points to be aware of before your appointment.
Do You Need to Fast?
No, fasting is not required for the Beta Thalassemia-HBB Deletion/Duplication Analysis test. You may eat and drink as normal before your appointment.
Practical Tips Before Your Test
Please keep the following in mind before attending your sample collection:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Inform the laboratory if you have had a blood transfusion within the past three months, as donor DNA may be present in your blood
- Let the laboratory know if you have undergone an allogeneic stem cell transplant, as this can affect how results are interpreted
- Inform the team about any gene therapy you have received, as this may also influence test performance
- Wear clothing that allows easy access to your arm for blood collection if a peripheral blood sample is being taken
Step-by-Step Procedure
This test may use one or more sample types. Below is the collection process for each.
Peripheral Blood Sample
- A trained phlebotomist cleans the inside of your arm with an antiseptic wipe.
- A tourniquet is placed around your upper arm to make the vein easier to locate.
- A small amount of blood (3 mL) is drawn from the vein into an EDTA (lavender-top) tube.
- The tourniquet is removed, and a small dressing is applied to the collection site.
- The labelled sample is stored under refrigeration and sent to the laboratory for DNA extraction and MLPA analysis.
Chorionic Villus (CVS) Sample
- CVS is a prenatal procedure performed by a qualified doctor, usually between 10 and 13 weeks of pregnancy.
- A small amount of tissue (approximately 30 mg) is collected from the placenta using a needle or tube under ultrasound guidance.
- The sample is placed in a sterile container and kept refrigerated at 2 to 8 degrees Celsius.
- It is transported to the laboratory on the scheduled test days (Monday to Saturday) for MLPA analysis.
Amniotic Fluid Sample
- Amniocentesis is performed by a doctor, typically between 15 and 20 weeks of pregnancy.
- A needle is carefully inserted through the abdomen into the amniotic sac to collect approximately 20 ml of fluid.
- The sample is collected in a dedicated Falcon tube and stored as directed.
- It is sent to the laboratory for DNA extraction and HBB MLPA testing.
Factors That Can Affect Accuracy
The following factors may reduce the reliability of test results:
- Recent blood transfusions introducing donor DNA into the sample
- Prior allogeneic stem cell transplantation
- Previous or current gene therapy treatments
- Haemolysed (damaged red blood cell) samples
- Frozen specimens or insufficient sample quantity
- Certain genomic rearrangements, such as inversions or mosaic variants, which MLPA may not detect
Understanding Your Beta Thalassemia-HBB Deletion/Duplication Analysis Test Results
Results from this test are qualitative, meaning they indicate the presence or absence of a deletion or duplication rather than a number. Your doctor or genetic counsellor will explain what the findings mean in the context of your personal and family history.
| Parameter | Normal Result | Abnormal Finding |
|---|---|---|
| HBB Gene Copy Number | 2 copies (one from each parent) | Fewer than 2 (deletion) or more than 2 (duplication) copies |
| Deletion/Duplication Status | No deletion or duplication detected | Deletion detected or duplication detected |
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
Prior allogeneic stem cell transplantation can interfere with result interpretation, as the sample may contain DNA from both the donor and the patient. Similarly, certain gene therapies can affect the performance of the Beta Thalassemia-HBB Deletion/Duplication Analysis test, and in such cases, the zygosity and copy number may not be accurately determined. Always disclose these treatments to the laboratory before testing.
How to Maintain Healthy Levels
As this is a genetic test, the results reflect your inherited gene structure and cannot be changed through diet or lifestyle. However, the following steps can support your well-being:
- If you are identified as a carrier, speak with a genetic counsellor before planning a pregnancy to understand your options fully
- Couples where both partners are carriers may benefit from discussing prenatal testing options with a specialist
- Regular follow-up with a haematologist is advisable for those with a confirmed diagnosis
Lupin Diagnostics Beta Thalassemia-HBB Deletion/Duplication Analysis Test Price
The Beta Thalassemia-HBB Deletion/Duplication Analysis test is available at Lupin Diagnostics starting at ₹11,880. This test requires a visit to a Lupin Diagnostics centre, as home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 11880 |
| CHENNAI | 11880 |
| HYDERABAD | 11880 |
| KOLKATA | 11880 |
| NAVI MUMBAI | 11880 |
| PUNE | 11880 |
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 Beta Thalassemia-HBB Deletion/Duplication Analysis 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 15 days.
Frequently Asked Questions
This test detects missing or extra copies of the HBB (beta-globin) gene using a method called MLPA. It helps diagnose beta-thalassaemia and related haemoglobin disorders, and is also used for carrier screening and prenatal diagnosis in couples from high-risk populations.
If standard gene sequencing finds only one or no pathogenic variant, it may be because certain large deletions are not detectable by sequencing alone. In such cases, the Beta Thalassemia-HBB Deletion/Duplication Analysis test is the next recommended step to check for exon or whole-gene deletions and duplications.
No fasting is required. You can eat and drink normally before the test. However, you should inform the laboratory about any recent blood transfusions, stem cell transplants, or gene therapy treatments before your appointment.
The MLPA method has an analytical sensitivity and specificity of 99% for detecting deletions and duplications. It is particularly effective for large HBB gene deletions, including the 619 bp deletion, which accounts for more than 50% of beta-thalassaemia cases in the Indian population.
At Lupin Diagnostics, the report for this test is typically delivered within 15 days. Results are made available digitally via email or WhatsApp.
Yes. The Beta Thalassemia-HBB Deletion/Duplication Analysis test procedure can be carried out on chorionic villus (CVS) or amniotic fluid samples collected during pregnancy. It is recommended for couples who are both carriers, so that the risk to the baby can be assessed before birth.
A positive result should be discussed with a qualified doctor or genetic counsellor. They can explain the clinical significance of the finding, assess the risk for family members, and advise on next steps, which may include testing of close relatives or further prenatal counselling.
Beta Thalassemia-HBB Deletion/Duplication Analysis Test: Booking, Price, and Results
