Sickle Cell Disease Mutation Screening Test
About Sickle Cell Disease Mutation Screening Test
| Field | Value |
|---|---|
| Also Known As | SCD Mutation Analysis, HBB Gene Mutation Screening, Sickle Cell Anaemia Mutation Detection, Haemoglobin S Mutation Test |
| Sample Type | Peripheral blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 5 days |
| Recommended For | All genders and ages; particularly those with a family history of sickle cell disease, couples planning pregnancy, and high-risk populations |
| Price | Starting at ₹4,800 |
What Is a Sickle Cell Disease Mutation Screening Test?
The Sickle Cell Disease Mutation Screening test is a DNA-based blood test that checks for mutations in the HBB gene, which carries the instructions for making haemoglobin (the protein in red blood cells that carries oxygen). It identifies whether a person has the sickle cell gene mutation and, if so, how many copies. The test is also called SCD Mutation Analysis or the Haemoglobin S Mutation Test. A small blood sample drawn from a vein is used for analysis.
What Does a Sickle Cell Disease Mutation Screening Test Measure?
This test analyses the HBB gene on chromosome 11 for specific mutations that cause abnormal haemoglobin production. The following aspects are examined:
| What Is Tested | What It Means |
|---|---|
| HBB gene mutation status | Checks whether the sickle cell point mutation is present in the gene |
| Haemoglobin S (HbS) variant | Identifies the specific mutation that causes red blood cells to become sickle-shaped |
| Other haemoglobin variants | Detects related abnormal forms such as haemoglobin C (HbC) and haemoglobin E (HbE) |
| Number of mutated gene copies | Determines whether one or both copies of the HBB gene carry the mutation |
Why Is a Sickle Cell Disease Mutation Screening Test Done?
Doctors order this test to confirm a diagnosis, identify carriers, or assess the risk of passing the condition to future children. The following sections explain when it is typically recommended.
Common Symptoms That May Require This Test
Your doctor may request a Sickle Cell Disease Mutation Screening test if you or your child experiences any of the following symptoms:
- Persistent fatigue and low energy due to a reduced number of red blood cells (anaemia)
- Recurring episodes of pain, often in the chest, abdomen, or joints
- Repeated infections, particularly in childhood
- Yellowing of the skin or eyes (jaundice)
- Delayed growth or development in children
- Sudden or gradual vision problems
Conditions This Test Can Help Detect
The Sickle Cell Disease Mutation Screening test procedure can help identify the following conditions:
- Sickle cell anaemia (HbSS), the most common and severe form of the disease
- Haemoglobin SC disease (HbSC)
- Sickle beta-thalassaemia
- Sickle cell trait (carrier status, where one normal and one mutated copy of the gene are present)
Sickle Cell Disease Mutation Screening Test During Pregnancy
Screening for sickle cell disease during pregnancy helps determine whether you or your partner carry the gene mutation and could pass it on to your baby. A blood test is ideally done before 10 weeks of pregnancy, accompanied by a detailed questionnaire about family and ethnic background. If both parents are found to be carriers, further testing options, including prenatal diagnosis, may be discussed with your doctor.
How to Prepare and What to Expect
No special preparation is needed for this test, but a few simple steps will help ensure the process goes smoothly.
Do You Need to Fast?
No, fasting is not required for the Sickle Cell Disease Mutation Screening test. You can eat and drink normally before your appointment.
Practical Tips Before Your Test
The following steps will help make your sample collection straightforward:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test.
- Inform the phlebotomist (the professional who collects the blood sample) if you have had a recent blood transfusion, as this can affect results.
- Let the healthcare provider know about any medications or supplements you are currently taking.
- Drink plenty of water before the appointment to keep your veins easily accessible.
- Wear a loose-fitting top or clothing with sleeves that can be rolled up easily.
Step-by-Step Procedure
Here is what to expect when you go for your sample collection:
- A trained phlebotomist will ask you to sit comfortably and will confirm your identity and test details.
- They will clean the skin on the inside of your elbow with an antiseptic wipe to prevent contamination.
- A small amount of blood (2 mL) is drawn from a vein using a fine needle into a lavender-topped EDTA tube.
- The needle is removed, and a small cotton pad is placed over the puncture site. The process takes only a few minutes.
- The labelled blood sample is stored at 2 to 8 degrees Celsius and transported to the laboratory.
- The sample undergoes End Point PCR (a method that identifies specific gene sequences) to detect mutations in the HBB gene. Results are available within 5 days.
Factors That Can Affect Accuracy
The following factors may influence the accuracy of your results:
- A recent blood transfusion can produce false-negative results if the haemoglobin S level falls below a certain threshold.
- High levels of foetal haemoglobin (Hb F) in newborns may affect results; the test may need to be repeated after six months.
- Poor sample quality or improper storage during transport can affect results.
- Certain medical conditions, such as polycythaemia (excess red blood cells) or abnormal blood proteins (cryoglobulinaemia), may affect interpretation.
Understanding Your Sickle Cell Disease Mutation Screening Test Results
Your results indicate whether the sickle cell gene mutation is absent, present in one copy, or present in both copies of the HBB gene. The table below outlines how results are typically categorised:
| Result | Interpretation |
|---|---|
| No HbS mutation detected | Normal; the individual does not carry the sickle cell gene |
| Heterozygous (one HbS copy) | Sickle cell trait (carrier status); the individual can pass the gene to their children but usually does not have symptoms |
| Homozygous (two HbS copies) | Sickle cell disease (HbSS); both copies of the gene carry the mutation |
| Compound heterozygous (HbS + HbC or beta-thalassaemia) | A variant form of sickle cell disease with associated health complications |
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 may affect how results are interpreted.
A recent blood transfusion can cause a false-negative result if the percentage of haemoglobin S in the sample drops below 15% to 20% due to the presence of donor red blood cells. In newborns, a high concentration of foetal haemoglobin may interfere with the test, and a repeat sample after six months may be recommended.
How to Maintain Healthy Levels
The following general wellness tips are relevant for individuals identified as carriers or those with sickle cell disease:
- Stay well-hydrated by drinking around eight glasses of water daily, as dehydration can trigger complications in people with sickle cell disease.
- Eat a varied diet rich in fruits, vegetables, and whole grains to support red blood cell production.
- If you are a carrier planning to have children, consider speaking with a genetic counsellor for guidance on family planning options.
Lupin Diagnostics Sickle Cell Disease Mutation Screening Test Price and Home Collection
The Sickle Cell Disease Mutation Screening test is available at Lupin Diagnostics starting at ₹4,800, with home sample collection offered across multiple cities. The table below shows indicative prices by city:
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 4800 |
| CHENNAI | 4800 |
| HYDERABAD | 4800 |
| KOLKATA | 4800 |
| NAVI MUMBAI | 4800 |
| PUNE | 4800 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
You can book the Sickle Cell Disease Mutation Screening test online in a few simple steps.
- 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
The Sickle Cell Disease Mutation Screening test home collection service is available across cities through Lupin Diagnostics, with trained phlebotomists visiting your home at your chosen time. All samples are processed in NABL-accredited laboratories, ensuring reliable results. Your digital report is delivered directly to you via email or WhatsApp.
Frequently Asked Questions
Basic sickle cell screening uses a sickling test or solubility test to check for the presence of abnormal haemoglobin. The Sickle Cell Disease Mutation Screening test goes further by analysing the DNA directly to identify the specific mutation, confirm carrier status, and distinguish between different forms of the condition. It is considered more definitive than initial screening methods.
This test is recommended for individuals who show symptoms of sickle cell disease, those with a family history of the condition, couples planning pregnancy, and newborns in high-risk populations. It is also useful for people from ethnic communities in central, eastern, and western India where the prevalence of the sickle cell gene is higher.
Yes, sickle cell disease is a significant health concern in India. India accounts for approximately 15% of all newborns with sickle cell disease worldwide. The condition is more prevalent in certain tribal and ethnic communities, with the sickle cell trait found in 1% to 40% of people in some communities across the country.
Yes, prenatal diagnosis is possible. A sample of the fluid surrounding the baby in the womb (amniotic fluid) can be tested for the sickle cell mutation. If you or your partner carries the gene, speak with your doctor about prenatal screening options and what they involve.
When both parents carry the sickle cell trait, there is a 25% chance with each pregnancy that the child will have sickle cell disease. There is a 50% chance the child will be a carrier, and a 25% chance the child will be unaffected. Genetic counselling is strongly recommended in this situation to help with informed family planning decisions.
A positive result means that a mutation in the HBB gene has been detected. You should consult a haematologist (a specialist in blood conditions) who will explain the result in the context of your full clinical history and advise on the next steps. Treatment and management options have improved considerably; early diagnosis allows for better planning and care.
Sickle Cell Disease Mutation Screening Test
