Haemophilia A & B Gene Panel Test: Booking, Price, and Results
About Haemophilia A & B Gene Panel Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | Haemophilia Gene Panel, F8 & F9 Gene Sequencing, Haemophilia A and B Genetic Test, Factor VIII and Factor IX Gene Panel |
| Sample Type | Chorionic villus sample (CVS), amniotic fluid, or peripheral blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 35 days |
| Recommended For | Males with suspected haemophilia, females for carrier testing, and family members with a known haemophilia history |
| Price | Starting at ₹21,600 |
What is a Haemophilia A & B Gene Panel Test?
The Haemophilia A & B gene panel test is a specialised molecular genetic test that examines the F8 and F9 genes for mutations that cause haemophilia A and haemophilia B. These two genes carry instructions for producing clotting proteins (Factor VIII and Factor IX) that help the blood form clots and stop bleeding. Also known as F8 & F9 Gene Sequencing or the Haemophilia A and B Genetic Test, this test uses Next Generation Sequencing (NGS) to detect disease-causing variants. Samples accepted include chorionic villus tissue (CVS), amniotic fluid, or peripheral blood.
What Does a Haemophilia A & B Gene Panel Test Measure?
This test analyses two specific genes and the types of mutations within them. The table below outlines what each component covers.
| Component | What it Looks For |
|---|---|
| F8 gene (Factor VIII gene) | Variants that cause haemophilia A, including intron 22 and intron 1 inversions |
| F9 gene (Factor IX gene) | Variants that cause haemophilia B by disrupting Factor IX production |
| Pathogenic mutations | Disease-causing changes confirmed to cause or strongly suggest haemophilia |
| Variants of uncertain significance (VUS) | Genetic changes whose clinical meaning requires further investigation |
| Carrier status | Presence of one mutated copy of F8 or F9 in females |
Why is a Haemophilia A & B Gene Panel Test Done?
This test is ordered in several clinical situations, from confirming a suspected diagnosis to assessing risk in family members. Below are the key reasons a doctor may recommend it.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to consider the Haemophilia A & B gene panel test:
- Prolonged bleeding after a minor cut, injury, or dental procedure
- Unexplained or spontaneous bleeding with no obvious cause
- Frequent or unusually large bruises
- Painful swelling in joints or muscles due to internal bleeding
- Blood in the urine or stool without a clear reason
- Excessive bleeding following surgery or a medical procedure
Conditions This Test Can Help Detect
This test can help identify or confirm the following conditions:
- Haemophilia A (classic haemophilia, or Factor VIII deficiency)
- Haemophilia B (Christmas disease, or Factor IX deficiency)
- Carrier status in females who have a family history of haemophilia
- Foetal risk of haemophilia in pregnancies where the mother is a known or potential carrier
Haemophilia A & B Gene Panel Test During Pregnancy
Pregnant women who are known or potential carriers of haemophilia may be offered prenatal testing to assess whether the foetus is affected. Genetic analysis of foetal DNA can be performed using chorionic villus tissue collected at approximately 11 to 14 weeks of pregnancy. Prior identification of the family-specific mutation is typically required before prenatal testing can be carried out.
How to Prepare and What to Expect
Preparation for this test is straightforward, but there are some important steps to follow before your appointment.
Do You Need to Fast?
No fasting is required for this test. You may eat and drink normally before sample collection.
Practical Tips Before Your Test
Keep the following points in mind before attending your appointment:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Inform your doctor about any current medications you are taking
- Genetic counselling is strongly recommended before and after this test to help you understand the results in context
- If you have had a previous coagulation test showing Factor VIII activity below 40% of normal, bring those reports along
- Wear comfortable, loose-fitting clothing that allows easy access to your arm for blood collection
Step-by-Step Procedure
This test may use one of three sample types depending on your clinical situation. The collection procedure for each is outlined below.
Peripheral Blood Sample (for diagnostic or carrier testing):
- A trained phlebotomist cleans the skin on the inner side of your elbow
- A small needle is used to draw approximately 3 ml of blood into a lavender-top (EDTA) tube
- The tube is labelled with your details and stored at 2 to 8 degrees Celsius
- The sample is dispatched to the molecular genetics laboratory, where DNA is extracted from white blood cells
- The F8 and F9 genes are sequenced using Next Generation Sequencing (NGS)
- Results are prepared and reported within 35 days
Chorionic Villus Sample (CVS) (for prenatal diagnosis at 11 to 14 weeks):
- A doctor performs the CVS procedure in a clinical setting under ultrasound guidance
- A small amount of chorionic villus tissue (approximately 30 mg) is collected in a sterile container
- The sample is stored at 2 to 8 degrees Celsius and dispatched to the laboratory promptly
- DNA is extracted from the foetal cells and analysed using NGS
- Results are available within 35 days
Amniotic Fluid Sample (for prenatal diagnosis):
- A doctor performs amniocentesis in a clinical setting
- Approximately 20 ml of amniotic fluid is collected in a Falcon tube
- The sample is stored and dispatched under the same refrigerated conditions
- Laboratory analysis and reporting follow the same NGS process and timeline
Factors That Can Affect Accuracy
The following factors may influence the reliability of your results:
- Poor sample quality or insufficient sample volume
- Large gene rearrangements (such as intron inversions) that standard sequencing may not fully detect
- The presence of a de novo (new) mutation not present in either parent
- Skewed X-inactivation in female carriers, which can affect clotting factor levels
Understanding Your Haemophilia A & B Gene Panel Test Results
Results from this test are qualitative, meaning they describe whether a mutation was found rather than providing a numerical value. The table below explains how each result category is typically interpreted.
| Result Category | Interpretation |
|---|---|
| Pathogenic variant detected | Confirms haemophilia A or B, or carrier status in females |
| Likely pathogenic variant detected | Strongly suggests haemophilia; further clinical correlation advised |
| Variant of uncertain significance (VUS) | Clinical meaning is unclear; further family or functional testing may be needed |
| No pathogenic variant detected | No mutation found, but does not fully rule out haemophilia |
Disease severity in haemophilia is based on clotting factor activity levels: mild (greater than 5% to 40%), moderate (1% to 5%), and severe (less than 1%).
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 biological factors can affect how results are interpreted:
- De novo mutations in the F8 gene occur in approximately 20% of isolated cases. This means a mother may not carry the mutation in her blood cells but could still pass it on through germline mosaicism.
- In some females carrying an F8 or F9 variant, a process called skewed X-inactivation causes the chromosome with the normal gene copy to be switched off in most cells. These women may have lower-than-expected clotting factor levels and could experience bleeding symptoms.
How to Maintain Healthy Levels
Because haemophilia is a genetic condition, the following tips focus on informed family planning and risk awareness rather than lifestyle changes:
- Families with a known history of haemophilia are encouraged to seek genetic counselling before planning a pregnancy
- Female relatives of affected individuals may consider carrier testing to understand their own status and reproductive options
- Knowing the specific familial mutation in advance can greatly simplify prenatal testing in future pregnancies
Lupin Diagnostics Haemophilia A & B Gene Panel Test Price
The Haemophilia A & B gene panel test cost at Lupin Diagnostics starts at ₹21,600. This is a specialised test that requires a visit to a Lupin Diagnostics centre; home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 21600 |
| CHENNAI | 21600 |
| HYDERABAD | 21600 |
| KOLKATA | 21600 |
| NAVI MUMBAI | 21600 |
| PUNE | 21600 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Booking your Haemophilia A & B gene panel test online is straightforward. Follow these steps:
- 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 35 days.
Frequently Asked Questions
This test analyses the F8 and F9 genes to identify mutations that cause haemophilia A and haemophilia B. It is used to confirm a clinical diagnosis in affected individuals, determine carrier status in female relatives, and support prenatal diagnosis in at-risk pregnancies.
This test is recommended for males with a suspected diagnosis of haemophilia, females who have a family history of haemophilia and wish to know their carrier status, and pregnant women who are known or potential carriers. A doctor or genetic counsellor can advise whether this test is appropriate for you.
Depending on the purpose of the test, the laboratory accepts peripheral blood (collected in an EDTA tube), chorionic villus tissue (CVS), or amniotic fluid. Your doctor will advise which sample type is appropriate based on your clinical situation.
In some cases of severe haemophilia A, the mutation is a large gene rearrangement called an intron inversion. This type of change may not be detected by standard sequencing. If results are negative but clinical suspicion remains high, your doctor may recommend additional specialised testing.
Results are available within 35 days. This test involves detailed DNA sequencing and analysis, which takes longer than routine blood tests. Your report will be sent digitally once ready.
Genetic counselling is strongly recommended before and after testing. A genetic counsellor can help you understand what the test can and cannot tell you, explain what different results mean for you and your family, and guide decisions around family planning or prenatal diagnosis.
A negative result means no disease-causing mutation was found in the F8 or F9 genes using the method applied. However, it does not fully exclude haemophilia, as some mutations may not be detectable by the sequencing approach used. Your doctor will interpret the result alongside your clinical history and coagulation test findings.
Haemophilia A & B Gene Panel Test: Booking, Price, and Results
