Fanconi Anaemia Chromosomal Breakage Analysis (Stress Cytogenetics) Test: Booking, Price, and Results
About Fanconi Anaemia Chromosomal Breakage Analysis (Stress Cytogenetics) Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | FA stress cytogenetics, DEB/MMC chromosomal breakage test, Fanconi anaemia chromosome fragility test, FA-DEB test |
| Sample Type | Peripheral blood |
| Fasting Required | No fasting required |
| Report Time | 13 days |
| Recommended For | All ages; typically children with bone marrow failure, pancytopenia, or congenital anomalies |
| Price | Starting at ₹9,000 |
What Is a Fanconi Anaemia Chromosomal Breakage Test?
The Fanconi anaemia chromosomal breakage test is a specialised laboratory test used to assess whether a person's chromosomes are unusually fragile and prone to breaking when exposed to specific DNA-damaging chemicals. Doctors use this test to help diagnose or rule out fanconi anaemia (FA), a rare inherited disorder that affects DNA repair, bone marrow function, and blood cell production. The test is also known as the FA chromosomal breakage test, FA-DEB test, or DEB/MMC chromosomal breakage test. A blood sample collected in a sodium heparin tube is required for analysis.
What Does a Fanconi Anaemia Chromosomal Breakage Test Measure?
The test exposes blood cells to DNA-damaging chemicals and then examines the chromosomes under a microscope to count how much damage has occurred. The following parameters are assessed:
| Parameter | What It Tells Us |
|---|---|
| Chromosomal breakage rate | Number of breaks per cell after chemical exposure; elevated in FA |
| Radial figures | Abnormal chromosome shapes where broken ends join incorrectly are a hallmark finding in FA |
| Percentage of aberrant cells | Proportion of cells showing chromosome damage |
| Mosaicism assessment | Identifies patients with a mix of normal and abnormal cells, which can affect test interpretation |
Why Is a Fanconi Anaemia Chromosomal Breakage Test Done?
A doctor may order this test when a patient shows signs that suggest a DNA repair disorder or unexplained bone marrow failure.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to request this test:
- Persistent fatigue with no clear cause
- Frequent or unexplained nosebleeds (epistaxis)
- Tiny red spots on the skin (petechiae) indicating platelet problems
- Shortness of breath or dizziness
- Excessive bleeding from minor wounds
- Recurrent infections due to low white blood cell counts
- Chest pain linked to severe anaemia
Conditions This Test Can Help Detect
This test can assist in identifying several conditions, including:
- Fanconi anaemia, a rare inherited condition involving bone marrow failure, developmental defects, short stature, and a high risk of certain cancers.
- Differentiation between inherited aplastic anaemia and acquired aplastic anaemia, which is important for treatment planning.
- Other chromosomal instability syndromes such as Nijmegen breakage syndrome, Roberts syndrome, and Warsaw breakage syndrome.
How to Prepare and What to Expect
The test procedure is straightforward. No fasting is required, but there are a few important steps to follow before and during sample collection.
Do You Need to Fast?
No fasting is required for this test. You can eat and drink normally before your appointment.
Practical Tips Before Your Test
Please keep the following points in mind 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 if you have recently had a blood transfusion, as this can affect the lymphocyte (white blood cell) populations in your sample.
- Let the laboratory know if you are taking immunosuppressive medications.
- Ensure the sample reaches the processing laboratory within 48 hours of collection.
- Patients with very low white blood cell counts should note there is a higher chance of culture failure; discuss this with your doctor beforehand.
Step-by-Step Procedure
Here is what to expect during the sample collection process:
- A trained phlebotomist cleans the inside of your arm and locates a suitable vein.
- Approximately 7 mL of peripheral blood collected in a sodium heparin tube.
- The sample is labelled and stored at refrigerated temperature (2 to 8°C) for transport.
- In the laboratory, the blood cells are cultured with a substance that stimulates white blood cells to divide, then treated with DNA cross-linking chemicals (mitomycin C and/or diepoxybutane).
- Chromosomes from the treated cells are prepared, stained, and examined under a microscope. Fifty cells are scored for breaks and abnormal formations.
- A specialist cytogeneticist analyses the results and prepares an interpretive report.
Factors That Can Affect Accuracy
Several factors may influence the accuracy of your result:
- Poor sample quality or improper storage during transport.
- Very low white blood cell count (leucopenia), which may cause the cell culture to fail.
- Recent blood transfusions, which alter the mix of white blood cells in circulation.
- Somatic mosaicism (a mix of normal and abnormal cells), which can produce a falsely normal result.
- If the sample is being collected outside the testing laboratory, timely transport is important to preserve cell viability.
Understanding Your Fanconi Anaemia Chromosomal Breakage Test Results
Results should always be reviewed together with your doctor, who will consider your full clinical picture. The table below provides general reference ranges used to interpret findings.
| Parameter | Normal (Non-FA) | FA Positive |
|---|---|---|
| Mean breaks per cell (DEB) | 0.00 to 0.10 breaks per cell | 1.06 to 23.9 breaks per cell |
| Radial figures | None or very rare | Present in the majority of cells |
| Cells with aberrations | Less than 5% | Greater than 30% typically |
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 results harder to interpret:
- Somatic mosaicism (revertant mosaicism) occurs in approximately 10 to 30% of FA patients. This means some blood cells have self-corrected, which can produce a normal or unclear blood test result even when FA is present. In such cases, testing on skin fibroblasts from a skin biopsy is recommended.
- A very low white blood cell count may cause the cell culture to fail entirely, requiring a repeat sample or alternative specimen type.
- Recent blood transfusions can introduce donor lymphocytes, altering results. Inform your doctor if a transfusion occurred recently.
How to Maintain Healthy Levels
Fanconi anaemia is a genetic condition and cannot be prevented through diet or lifestyle changes. However, the following steps are helpful for those affected:
- Attend regular follow-up appointments with a haematologist for blood count monitoring and bone marrow evaluation.
- Seek genetic counselling for close family members to identify carriers of the FA gene mutation.
- Maintain general health through balanced nutrition and prompt treatment of infections, in consultation with your care team.
Lupin Diagnostics Fanconi Anaemia Chromosomal Breakage Test Price and Home Collection
This test is available at Lupin Diagnostics starting at ₹9,000, with home sample collection offered across major cities.
| City | Approximate Price (₹) |
|---|---|
| Mumbai | 9000 |
| Pune | 9000 |
| Bangalore | 9000 |
| Chennai | 9000 |
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 to book your test online:
- 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 is available for this test across cities through Lupin Diagnostics' certified phlebotomist network. All samples are processed in NABL-accredited laboratories with strict quality controls. Digital reports are shared via email or WhatsApp once ready.
Frequently Asked Questions
Fanconi anaemia is a rare inherited condition that affects bone marrow function, causes developmental differences, and raises the risk of certain cancers. The chromosomal breakage test confirms the diagnosis by detecting the characteristic DNA repair defect. An accurate diagnosis is essential because it directly shapes treatment decisions, including whether a bone marrow transplant is appropriate.
The test works by exposing a patient's blood cells to chemicals that damage DNA. In healthy individuals, cells repair this damage efficiently and show very few breaks. In patients with Fanconi anaemia, the DNA repair mechanism is faulty, so cells show far more breaks and abnormal chromosome formations. The test measures and counts this damage.
In some FA patients, blood-forming cells undergo a spontaneous self-correction over time. This means a blood test may appear normal even though the patient has FA. Skin cells do not undergo this correction, so testing skin fibroblasts obtained from a small biopsy can give a more reliable result when blood testing is inconclusive.
Not entirely. Around 10 to 30% of FA patients have a mix of normal and abnormal cells in their blood, a phenomenon called mosaicism. This can produce a normal or borderline blood test result. If clinical suspicion remains after a normal blood result, your doctor may recommend repeating the test on skin fibroblasts.
This test requires the collected cells to be grown in a laboratory culture before chromosomes can be examined. At Lupin Diagnostics, the report is typically delivered within 13 days of sample receipt.
A positive result suggests the patient's cells show the pattern of chromosome damage associated with Fanconi anaemia or another chromosomal instability syndrome. Further genetic panel testing is usually recommended to identify the specific gene involved. This helps guide treatment and allows carrier testing for family members.
Yes, this test is suitable for all age groups. It is most commonly performed on children who present with unexplained anaemia, low blood cell counts across all types (pancytopenia), short stature, or physical differences present from birth that may point to a genetic cause.
Fanconi Anaemia Chromosomal Breakage Analysis (Stress Cytogenetics) Test: Booking, Price, and Results
