G6PD Gene Mutation Test: Booking, Price, and Results
About G6PD Gene Mutation Test
| Field | Value |
|---|---|
| Also Known As | G6PD genetic test, G6PD gene sequencing, G6PD mutation detection test, Glucose-6-phosphate dehydrogenase gene analysis |
| Sample Type | Whole blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 20 days |
| Recommended For | All genders and ages, particularly those with suspected G6PD deficiency, a family history of the condition, or from high-risk populations (African, Asian, or Mediterranean descent) |
| Price | Starting at ₹7,200 |
What is a Glucose-6 Phosphate Dehydrogenase (G6PD) Gene Mutation Test?
The Glucose-6 phosphate dehydrogenase (G6PD) gene mutation test analyses DNA from a blood sample to identify specific changes in the G6PD gene. This gene provides instructions for making an enzyme that helps protect red blood cells from damage. The test is also known as the G6PD genetic test or G6PD gene sequencing. Doctors order it when they suspect an inherited form of G6PD deficiency or when a standard enzyme activity test gives unclear results.
What Does a Glucose-6 Phosphate Dehydrogenase (G6PD) Gene Mutation Test Measure?
This test uses Next Generation Sequencing (NGS), an advanced DNA reading method, to examine all coding regions of the G6PD gene. It looks for specific DNA changes that can cause the enzyme to malfunction or be absent entirely.
The key elements assessed include the following:
| Component | What it Tells Us |
|---|---|
| G6PD gene variants | Identifies disease-causing mutations (over 200 known variants) in the G6PD gene on the X chromosome |
| Variant classification | Classifies any detected change using ACMG and WHO guidelines to determine its clinical significance |
| Mutation type | Detects single-base missense mutations, which alter the protein that the gene produces |
| Variant of uncertain significance (VUS) | Flags genetic changes whose clinical impact is not yet fully established |
Why is a Glucose-6 Phosphate Dehydrogenase (G6PD) Gene Mutation Test Done?
The G6PD Gene Mutation Test helps confirm a suspected inherited condition affecting red blood cells. It is particularly useful when enzyme activity results are inconclusive or when a doctor needs to establish carrier status in a family member.
Common Symptoms That May Require This Test
- Persistent fatigue and weakness without a clear cause
- Pale skin or pallor, suggesting possible red blood cell breakdown
- Yellowing of the skin or eyes (jaundice)
- Dark or tea-coloured urine following illness or medication use
- Shortness of breath or rapid heartbeat
- Enlarged spleen (splenomegaly), detected during a physical examination
- Unexplained jaundice in a newborn
Conditions This Test Can Help Detect
- G6PD deficiency, an X-linked recessive disorder in which red blood cells break down (haemolysis) in response to infections or certain drugs
- Acute haemolytic anaemia (a sudden episode of red blood cell destruction)
- Chronic non-spherocytic haemolytic anaemia (ongoing red blood cell breakdown not related to cell shape)
- Neonatal jaundice with a suspected genetic cause
- Carrier status in females who carry one mutated copy of the gene
How to Prepare and What to Expect
Preparing for this test is straightforward. No fasting is needed, but a few precautions will help ensure an accurate result.
Do You Need to Fast?
No fasting is required before this test. You may eat and drink normally on the day of your appointment.
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
- Inform the laboratory staff about all medications and supplements you are currently taking, especially antimalarials, sulphonamides, and aspirin, as these can affect results
- Avoid fava beans (broad beans) in the days before your test
- If you have recently had a blood transfusion, wait at least six weeks before testing, as donor DNA in the blood can affect genetic results
- If you have had a haematopoietic stem cell transplant from a different donor, inform your doctor before booking, as this may interfere with the test
- Drink adequate water before your blood draw to make the vein easier to locate
Step-by-Step Procedure
- A trained phlebotomist (blood collection specialist) will clean the skin over a vein in your arm with an antiseptic wipe.
- A small needle is inserted into the vein, and approximately 2 ml of blood is drawn into a lavender-top EDTA tube (a collection tube that prevents the blood from clotting).
- The needle is removed, and a small bandage is applied. You can resume normal activities immediately.
- The sample is stored under refrigeration at 2 to 8 degrees Celsius and dispatched to the laboratory.
- In the lab, DNA is extracted from white blood cells in the sample and analysed using NGS technology, which reads the entire coding region of the G6PD gene.
- Results are reviewed and reported by laboratory specialists within 20 days.
Factors That Can Affect Accuracy
Certain situations can make results less reliable. Be aware of the following:
- A blood transfusion received within the previous six weeks may introduce donor DNA and affect genetic results
- Large deletions or rearrangements in the gene are not detectable by this sequencing method
- A very high white blood cell count or high levels of young red blood cells (reticulocytosis) may affect the enzyme activity correlation
- Skewed X-inactivation in female carriers can sometimes produce results that require additional testing to interpret correctly
Understanding Your Glucose-6 Phosphate Dehydrogenase (G6PD) Gene Mutation Test Results
| Result | Interpretation |
|---|---|
| No pathogenic variant detected | No disease-causing G6PD gene mutations identified |
| Pathogenic variant detected | One or more mutations found; consistent with G6PD deficiency or carrier status |
| Variant of uncertain significance (VUS) | A genetic change is present, but its clinical impact is not yet fully understood; further family testing may be advised |
For general reference, normal G6PD enzyme activity levels are approximately 6.75 to 11.95 U/g Hb in adults and 10.15 to 14.71 U/g Hb in neonates, though the gene mutation test itself does not measure enzyme activity directly.
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
- Patients who have received a non-leukocyte-reduced blood transfusion within the preceding six weeks may have inaccurate genetic results due to the presence of both donor and recipient DNA in the sample.
- In heterozygous females (who carry one mutated copy), skewed X-inactivation may result in G6PD deficiency despite having one normal gene copy. An enzyme activity test is needed alongside genetic results in such cases.
- A recent bone marrow transplant from a different donor may also affect the accuracy of genetic findings.
How to Maintain Healthy Levels
For individuals who receive a positive result, awareness and avoidance are the most practical approaches to staying well:
- Avoid fava beans (broad beans), as these are a well-established trigger for haemolytic episodes in people with G6PD deficiency.
- Discuss all medications with your doctor before taking them. Certain drugs, including some antimalarials, sulphonamides, nitrofurantoin, dapsone, and high-dose vitamin C, can trigger red blood cell breakdown.
- Avoid exposure to naphthalene, a chemical found in some mothballs, as it is a known trigger for haemolytic episodes.
Lupin Diagnostics Glucose-6 Phosphate Dehydrogenase (G6PD) Gene Mutation Test Price and Home Collection
The G6PD gene mutation test is available at Lupin Diagnostics starting at ₹7,200, with home sample collection available across cities.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 7200 |
| CHENNAI | 7200 |
| HYDERABAD | 7200 |
| KOLKATA | 7200 |
| NAVI MUMBAI | 7200 |
| PUNE | 7200 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
- Select the Glucose-6 phosphate dehydrogenase (G6PD) gene mutation 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 20 days.
Home Collection
G6PD test home collection is available across cities through Lupin Diagnostics. A certified phlebotomist visits your home at your chosen time, collects the blood sample, and dispatches it to an NABL-accredited laboratory for analysis. Your digital report is delivered directly to your email or WhatsApp once ready.
Frequently Asked Questions
The enzyme test measures G6PD activity levels in the blood, while the G6PD gene mutation test identifies specific DNA changes in the G6PD gene. The genetic test does not measure enzyme activity directly. Both tests provide different types of information and may sometimes be ordered together for a complete picture.
This test is recommended for individuals with symptoms of haemolytic anaemia, those with inconclusive enzyme activity results, people with a family history of G6PD deficiency, and females who may be carriers of the condition. It is also used to evaluate newborns with unexplained jaundice.
G6PD deficiency mainly affects males. Because the G6PD gene is located on the X chromosome, males (who have only one X chromosome) are more likely to show symptoms. Females can also be affected but are more commonly carriers of the faulty gene without showing obvious symptoms.
It is advisable to wait at least six weeks after a blood transfusion before taking the G6PD genetic test. A recent transfusion introduces donor DNA into the blood, which can give misleading results. Let your doctor know about any recent transfusions before booking.
The blood collection itself takes only a few minutes. A small sample is drawn from a vein in your arm, placed in a collection tube, and sent to the laboratory. Processing and analysis using NGS technology takes up to 20 days, after which your report is delivered digitally.
A VUS means a change was found in the G6PD gene, but there is not yet enough scientific evidence to confirm whether it causes harm. Your doctor may recommend testing of close family members or an enzyme activity test to help clarify the finding. A VUS does not automatically mean you have or will develop G6PD deficiency.
People with G6PD deficiency are generally advised to avoid fava beans, certain medications (such as antimalarials, sulphonamides, dapsone, and nitrofurantoin), naphthalene-based products, and infections where possible, as these are known to trigger haemolytic episodes. Always consult your doctor for specific guidance based on your genetic result.
G6PD Gene Mutation Test: Booking, Price, and Results
