Alpha Thalassemia Mutation Screening By MLPA Test: Booking, Price, and Results
About Alpha Thalassemia Mutation Screening By MLPA Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | Alpha Thalassaemia MLPA, HBA1/HBA2 Deletion/Duplication Analysis, Alpha-Globin Gene MLPA |
| Sample Type | Venous blood (EDTA tube) |
| Fasting Required | No |
| Report Time | 15 days |
| Recommended For | All ages, males and females; particularly those of Asian, African, or Mediterranean ancestry |
| Price | Starting at ₹12,000 |
What is an Alpha Thalassemia Mutation Screening By MLPA Test?
The Alpha Thalassemia Mutation Screening by MLPA Test is a specialised genetic test that detects deletions or duplications in the alpha-globin genes (HBA1 and HBA2). MLPA stands for Multiplex Ligation-Dependent Probe Amplification, a technique that can identify both common and rare gene deletions in a single test. A small blood sample is all that is needed for this analysis.
This test is also referred to as Alpha Thalassaemia MLPA or HBA1/HBA2 Deletion/Duplication Analysis. Doctors typically prescribe it for individuals with unexplained anaemia, a family history of thalassaemia, or couples planning a pregnancy who belong to high-risk populations.
What Does an Alpha Thalassemia Mutation Screening By MLPA Test Measure?
This test examines the alpha-globin gene region on chromosome 16 to identify abnormal changes in gene copy numbers. Below are the key elements it analyses.
| Component | What It Looks For |
|---|---|
| HBA1 gene | Deletions or duplications of one of the two alpha-globin genes |
| HBA2 gene | Changes in the second alpha-globin gene |
| HS-40 regulatory region | Abnormalities in the region that controls how alpha-globin genes function |
| Gene copy number | Overall count of functional alpha-globin gene copies present |
| Common deletions | Known variants including -α3.7, -α4.2, --SEA, --MED, --FIL, --THAI, and -(α)20.5 |
| Gene triplications | Extra copies of the alpha-globin gene (e.g., five genes instead of four) |
Why is an Alpha Thalassemia Mutation Screening By MLPA Test Done?
This test is used both for diagnosis and for understanding a person's carrier status. It helps doctors identify why someone has certain blood abnormalities and assess the risk of passing the condition to a child.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to recommend this test:
- Persistent fatigue or weakness without a clear cause
- Pale or slightly yellowish skin
- Small or abnormally shaped red blood cells are found on a routine blood count
- Mild shortness of breath, especially during physical activity
- Unexplained enlargement of the spleen
- Mild jaundice (a yellowing of the skin or eyes)
- Family history of thalassaemia or haemoglobin disorders
Conditions This Test Can Help Detect
This test can help identify a range of alpha-globin gene abnormalities, including:
- Silent carrier status (one gene deletion, typically no symptoms)
- Alpha thalassaemia trait (two gene deletions, mild anaemia)
- Haemoglobin H (HbH) disease (three gene deletions, moderate anaemia)
- Haemoglobin Bart hydrops fetalis syndrome (four gene deletions, a severe foetal condition)
- Alpha-globin gene triplication, which can worsen the clinical picture when beta-thalassaemia is also present
Alpha Thalassemia Mutation Screening By MLPA Test During Pregnancy
This test plays an important role in prenatal planning. Organisations such as the American College of Obstetrics and Gynecology recognise that individuals of African, Mediterranean, and Southeast Asian ancestry face a higher risk of haemoglobin disorders, including thalassaemia.
If one or both parents are identified as carriers, prenatal diagnosis options are available. These include chorionic villus sampling (CVS) between 10 and 14 weeks of pregnancy, or amniocentesis after 16 weeks. Genetic counselling is strongly advised for couples at risk before pursuing prenatal testing.
How to Prepare and What to Expect
No special preparation is required for this test. The Alpha Thalassemia Mutation Screening by MLPA Test procedure is straightforward and involves a simple blood draw.
Do You Need to Fast?
No fasting is required before this test. You can eat and drink normally on the day of your appointment.
Practical Tips Before Your Test
Keep the following points in mind before your sample is collected:
- Bring a detailed clinical history report, including your symptoms, previous test results, and family history, as this is required for the test
- Inform your doctor or the phlebotomist if you have had a blood transfusion recently, as this can affect haematological tests (though not the genetic analysis itself)
- Carry any previous relevant reports, such as a complete blood count (CBC) or HPLC results, for reference
- Wear comfortable clothing with easy access to the inner arm for the blood draw
- Stay well hydrated before your appointment to make the vein easier to locate
Step-by-Step Procedure
Here is what happens during sample collection for the Alpha Thalassemia Mutation Screening by MLPA Test:
- A trained phlebotomist cleans the skin on your inner arm at the collection site.
- A small needle is gently inserted into a vein to collect the blood sample (this is called venepuncture).
- A blood sample is drawn into an EDTA tube, which contains an anticoagulant to keep the sample stable.
- The sample is labelled with your details and stored at the appropriate temperature before dispatch.
- It is sent to a specialised genetics laboratory where the MLPA analysis is performed using capillary electrophoresis and dedicated software.
- Results are reviewed, and a report is prepared within the agreed turnaround time.
Factors That Can Affect Accuracy
Certain factors may influence the quality or interpretation of your test results:
- A recent blood transfusion (may temporarily affect haematological readings)
- Sample haemolysis, meaning breakdown of red blood cells during or after collection
- Improper storage or significant delay in transporting the sample to the laboratory
- Poor quality of DNA extraction from the collected sample
Understanding Your Alpha Thalassemia Mutation Screening By MLPA Test Results
This is a qualitative genetic test. Results are not reported as numbers but as findings about the presence or absence of gene deletions or duplications. Your doctor will explain what the findings mean for you and your family.
| Finding | Interpretation |
|---|---|
| No deletion or duplication detected | Normal alpha-globin gene complement (four functional genes) |
| Single gene deletion (-α/αα) | Silent carrier (three functional genes; usually no symptoms) |
| Two gene deletions (-α/-α or --/αα) | Alpha thalassaemia trait (two functional genes; mild anaemia possible) |
| Three gene deletions (--/-α) | Haemoglobin H disease (one functional gene; moderate anaemia) |
| Four gene deletions (--/--) | Haemoglobin Bart hydrops fetalis syndrome (no functional genes; severe) |
| Triplication detected (ααα/αα) | Five alpha-globin genes observed; may worsen beta-thalassaemia if also present |
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 situations can make interpretation more complex. Your doctor will take these into account:
- In thalassaemia minima (the mildest carrier form), routine blood count values may appear normal. Molecular genetic testing, such as this MLPA test, is the only reliable way to detect this condition.
- In individuals who also carry sickle cell disease, the typical red blood cell changes associated with alpha thalassaemia may appear less pronounced in standard blood tests.
How to Maintain Healthy Levels
Because alpha thalassaemia is a genetic condition, the gene status itself cannot be changed. However, the following steps support overall well-being:
- Seek genetic counselling if you are a carrier, to understand what this means for family planning.
- If both partners are carriers, speak with a genetic counsellor before or during pregnancy to discuss options.
- Avoid taking iron supplements without medical advice, as thalassaemia can sometimes lead to iron overload.
Lupin Diagnostics Alpha Thalassemia Mutation Screening By MLPA Test Price and Home Collection
The Alpha Thalassemia Mutation Screening by MLPA Test cost at Lupin Diagnostics starts at ₹12,000. Home sample collection is available, so you can have your blood drawn at your convenience without visiting a centre.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 12000 |
| CHENNAI | 12000 |
| HYDERABAD | 12000 |
| KOLKATA | 12000 |
| NAVI MUMBAI | 12000 |
| PUNE | 12000 |
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 for an Alpha Thalassemia Mutation Screening by MLPA Test online booking:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Home collection for this test is available across cities. A certified phlebotomist will visit your home at your chosen time, collect the blood sample in the correct EDTA tube, and ensure it is dispatched promptly to the laboratory. All samples are processed in NABL-accredited laboratories, and your digital report is delivered securely via email or WhatsApp.
Frequently Asked Questions
MLPA is a technique that can detect deletions and duplications in genes efficiently and accurately. It is particularly well-suited to Alpha Thalassemia Mutation Screening because most cases are caused by large gene deletions that standard sequencing methods may not reliably pick up.
This test is recommended for individuals with unexplained microcytic anaemia (unusually small red blood cells), those with a family history of thalassaemia, or couples planning a pregnancy who belong to populations where alpha thalassaemia is more common, such as those of Asian, African, or Mediterranean descent.
No preparation is required. You do not need to fast, and there are no dietary restrictions. Simply ensure you bring your clinical history and any previous relevant reports to your appointment, as this information is required for accurate interpretation.
The report is delivered within 15 days. This turnaround time reflects the detailed genetic analysis performed in a specialised laboratory.
This test detects more than 96% of known alpha thalassaemia mutations, with an analytical sensitivity and specificity of over 99%. Some rare point mutations may require additional sequencing for a complete picture, which your doctor can advise on.
If both parents carry alpha-globin gene deletions, their children may be at risk of conditions such as HbH disease or Haemoglobin Bart syndrome. Genetic counselling is recommended so that a specialist can explain the specific risks and discuss prenatal testing options with you.
Yes, home collection is fully reliable. A trained phlebotomist collects the blood sample using the correct tube and follows strict handling protocols. The sample is then transported under appropriate conditions to a NABL-accredited laboratory for analysis.
Alpha Thalassemia Mutation Screening By MLPA Test: Booking, Price, and Results
