Bone Marrow Failure Syndrome Test
About Bone Marrow Failure Syndrome Test
| Field | Value |
|---|---|
| Also Known As | Bone Marrow Failure Gene Panel, Inherited Bone Marrow Failure Syndrome (IBMFS) Panel, BMF Genetic Panel, Bone Marrow Failure Syndrome NGS Panel |
| Sample Type | Peripheral blood (EDTA tube) |
| Fasting Required | No |
| Report Time | 30 days |
| Recommended For | All ages; particularly children or adults with unexplained low blood cell counts, physical abnormalities, or a family history of bone marrow failure |
| Price | Starting at ₹28,800 |
What is a Bone Marrow Failure Syndrome Test?
The bone marrow failure syndrome test is a specialised genetic test that examines a panel of genes linked to conditions where the bone marrow cannot produce enough blood cells. It is typically ordered by a haematologist or genetic specialist when a patient shows signs of unexplained low blood cell counts or when an inherited blood disorder is suspected. Also known as the Bone Marrow Failure Gene Panel or IBMFS Panel, it uses Next Generation Sequencing (NGS) to analyse the patient's DNA from a blood sample.
What Does a Bone Marrow Failure Syndrome Test Measure?
This test screens a panel of genes associated with inherited bone marrow failure syndromes. The following gene groups are among those analysed:
| Gene Group | Associated Condition |
|---|---|
| FANCA, FANCB, FANCC and related Fanconi genes | Fanconi anaemia, the most common inherited cause of bone marrow failure |
| TERT, TERC, DKC1 (telomere-related genes) | Dyskeratosis congenita, linked to abnormal telomere shortening |
| RPS19, RPL5, RPL11 (ribosome biogenesis genes) | Diamond-Blackfan anaemia, affecting red blood cell production |
| SBDS gene | Shwachman-Diamond syndrome, affecting the pancreas, bones, and bone marrow |
The panel typically covers 60 to 156 genes in total, examining coding regions and non-coding variants to give a thorough picture of potential inherited causes.
Why is a Bone Marrow Failure Syndrome Test Done?
Doctors order this test when a patient's symptoms or blood results suggest an inherited blood disorder. Here is a breakdown of when and why it may be requested.
Common Symptoms That May Require This Test
Several symptoms can prompt a doctor to recommend this test. These include:
- Persistent fatigue and paleness (anaemia)
- Unusual or excessive bruising and bleeding (due to low platelet count)
- Frequent fevers or recurring infections (due to low white blood cell count)
- Mouth ulcers or sores that do not heal
- Abnormal physical features noted at birth or in childhood, such as short stature or limb differences
Conditions This Test Can Help Detect
This test can help identify a range of inherited conditions. These include:
- Fanconi anaemia
- Diamond-Blackfan anaemia
- Dyskeratosis congenita
- Shwachman-Diamond syndrome
- Aplastic anaemia and related inherited forms
- Myelodysplastic syndrome
- Pancytopenia-developmental delay syndrome
- Other rare inherited bone marrow failure syndromes
Patients with confirmed inherited bone marrow failure syndromes also have a higher risk of developing blood cancers or solid tumours, making early detection important.
Bone Marrow Failure Syndrome Test for Chronic Disease Monitoring
Early and accurate identification of inherited bone marrow failure syndromes plays an important role in long-term disease management. Distinguishing inherited forms from acquired forms helps doctors choose appropriate treatments, identify potential bone marrow transplant donors, and assess risk for related conditions. Patients with a confirmed diagnosis typically require ongoing blood monitoring every 3 to 12 months, depending on how severe the condition is.
How to Prepare and What to Expect
Preparation for this test is straightforward, but there are a few important steps to take before your appointment.
Do You Need to Fast?
No fasting is required for this test. You can eat and drink normally before your sample is collected.
Practical Tips Before Your Test
Being well prepared helps ensure the best possible sample quality. Keep the following points in mind:
- 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 if you have had a recent blood transfusion or bone marrow transplant, as this can affect the sample
- If you have undergone an allogeneic bone marrow or stem cell transplant, tell your doctor before the test; a skin biopsy sample may be needed instead of blood
- Share any personal or family history of blood disorders or cancers with your healthcare provider
- Genetic counselling and informed consent are recommended before proceeding with this test; ask your doctor about this if you have not yet had a counselling session
Step-by-Step Procedure
The sample collection process is simple and quick. Here is what to expect:
- A trained healthcare professional will clean the skin over a vein, usually on your inner arm.
- A small needle is inserted, and approximately 2 ml of blood is drawn into a lavender-top EDTA tube.
- The sample is labelled and stored at refrigeration temperature (2 to 8 degrees Celsius) to preserve its quality.
- The sample is dispatched to a specialised genetics laboratory on the same day or as soon as possible.
- In the laboratory, DNA is extracted and analysed using Next-Generation Sequencing (NGS), which examines coding regions and splicing junctions across the gene panel.
- Results are reviewed by genetic specialists and communicated to your referring doctor within the report delivery window.
Factors That Can Affect Accuracy
Certain factors may influence the reliability of your test results. These include:
- A recent allogeneic bone marrow or stem cell transplant (donor DNA in the blood can interfere with results)
- Poor sample handling or breaks in the cold chain during transport
- Somatic mosaicism, where only some cells carry the mutation, which may produce a false-negative result
- Technical limitations of NGS, meaning some variants in regulatory regions or large multi-exon deletions may not be detected
Understanding Your Bone Marrow Failure Syndrome Test Results
This is a qualitative genetic test, meaning results are not reported as numbers but as interpretive categories. Your doctor or genetic counsellor will explain what the findings mean for you personally.
| Result Type | Interpretation |
|---|---|
| Negative (no pathogenic variants detected) | No disease-causing genetic changes were found in the genes tested |
| Positive (pathogenic variant detected) | A disease-causing genetic change has been identified, confirming an inherited bone marrow failure syndrome |
| Variant of Uncertain Significance (VUS) | A genetic change was found, but its clinical importance is currently unclear; further evaluation may be needed |
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
Some situations can affect how results should be interpreted:
- If you have recently had an allogeneic bone marrow or stem cell transplant, donor DNA in the blood may produce misleading results. A skin biopsy sample is preferred in such cases.
- Somatic mosaicism (a mix of normal and affected cells in the body) may cause a mutation to be missed on a blood-based test.
How to Maintain Healthy Levels
If you have been diagnosed with an inherited bone marrow failure syndrome, the following general steps can support your well-being:
- Attend all scheduled haematology follow-up appointments for regular blood count monitoring.
- Avoid exposure to known bone marrow toxins, such as certain industrial chemicals and unnecessary radiation.
- Practise good hygiene and infection prevention, particularly if your white blood cell count is low.
Lupin Diagnostics Bone Marrow Failure Syndrome Test Price
The bone marrow failure syndrome test cost at Lupin Diagnostics starts at ₹28,800. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 28800 |
| CHENNAI | 28800 |
| HYDERABAD | 28800 |
| KOLKATA | 28800 |
| NAVI MUMBAI | 28800 |
| PUNE | 28800 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Booking your bone marrow failure syndrome test online with Lupin Diagnostics 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 the stipulated turnaround time.
Frequently Asked Questions
This test identifies inherited genetic mutations in genes linked to conditions where the bone marrow fails to produce enough blood cells. It helps doctors confirm a diagnosis of an inherited bone marrow failure syndrome and guides decisions about treatment and long-term care.
This test is recommended for children or adults with unexplained low blood cell counts, unusual physical features, or a family history of bone marrow failure. A haematologist or genetic specialist is typically the referring doctor for this test.
The bone marrow failure syndrome test procedure involves a simple blood draw. A small amount of blood is collected from a vein in your arm and placed in an EDTA tube. In certain cases, such as after a bone marrow transplant, a skin sample may be collected instead.
No, fasting is not required. You can eat and drink as usual on the day of your appointment. However, you should bring a detailed clinical history, as this is needed for the test.
Results are typically available within 30 days. NGS-based genetic tests require detailed laboratory analysis and expert review, which is why the turnaround time is longer than routine blood tests.
A positive result means a disease-causing genetic mutation has been identified in one or more of the tested genes. Your doctor and a genetic counsellor will explain what the finding means for your health, including options for management and implications for family members.
Yes. A result may come back as a Variant of Uncertain Significance (VUS), meaning a genetic change was found, but its effect on health is not yet fully understood. Your doctor may recommend further evaluation or family testing. Scientific understanding of such variants often improves over time.
Bone Marrow Failure Syndrome Test
