Deletion 20q MDS BloodBone Marrow Test: Booking, Price, and Results
About Deletion 20q MDS BloodBone Marrow Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | Del(20q) FISH, Chromosome 20q Deletion FISH, 20q12 Deletion FISH, MDS FISH (20q) |
| Sample Type | Bone marrow (sodium heparin tube) and peripheral blood (EDTA tube) |
| Fasting Required | Not required in most cases; follow your doctor's instructions if sedation is planned for bone marrow collection |
| Report Time | 3 days |
| Recommended For | Adults of both genders with suspected or confirmed myelodysplastic syndrome, myeloproliferative neoplasms, or unexplained low blood counts |
| Price | Starting at ₹4,900 |
What is a Deletion 20q MDS BloodBone Marrow Test?
The Deletion 20q MDS BloodBone marrow test is a specialised chromosomal analysis that looks for a specific genetic change in blood or bone marrow cells. It uses a technique called fluorescence in situ hybridisation (FISH), which identifies whether a segment of chromosome 20 is missing. Doctors order this test when they suspect myelodysplastic syndrome (MDS), a group of disorders where bone marrow does not produce enough healthy blood cells, or related conditions. It may also be known as the Del(20q) FISH or Chromosome 20q Deletion FISH test.
What Does a Deletion 20q MDS BloodBone Marrow Test Measure?
This test examines cells from bone marrow and peripheral blood under a fluorescence microscope to detect whether genetic material is missing from specific regions on chromosome 20. Two key regions are assessed, along with the overall proportion of abnormal cells.
| Parameter | What It Assesses |
|---|---|
| 20q12 region (PTPRT gene, D20S108 marker) | Checks for loss of genetic material in this chromosomal segment |
| 20q13.1 region (MYBL2 gene, D20S150 marker) | Identifies deletions in this neighbouring segment of chromosome 20 |
| Percentage of abnormal cells | Measures how many cells carry the deletion; reported against a laboratory-specific cutoff |
A standard analysis examines 200 interphase cells (non-dividing cells). For patients being monitored for minimal residual disease, up to 500 cells may be analysed.
Why is a Deletion 20q MDS BloodBone Marrow Test Done?
This test is ordered when a doctor needs to confirm or rule out a chromosomal abnormality linked to specific blood and bone marrow disorders. It also plays a role in assessing prognosis and monitoring disease over time.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to request a Deletion 20q MDS Blood Bone marrow test:
- Persistent fatigue and weakness with no clear cause
- Shortness of breath, even with mild activity
- Frequent or prolonged infections
- Unusual bruising or bleeding that does not stop quickly
- Dizziness or chest discomfort
- Unexplained low counts of red blood cells, white blood cells, or platelets on a routine blood test
Conditions This Test Can Help Detect
A doctor may order this test to investigate or confirm the following conditions:
- Myelodysplastic syndromes (MDS)
- Myeloproliferative neoplasms, including polycythaemia vera
- Acute myeloid leukaemia (AML)
- Therapy-related MDS following prior cancer treatment
- Pure red blood cell aplasia
Deletion 20q MDS BloodBone Marrow Test for Chronic Disease Monitoring
In patients already diagnosed with MDS or myeloproliferative disorders, this test helps track whether the disease is stable or progressing. When del(20q) appears as the only chromosomal change, it is associated with a more favourable outlook; however, the appearance of additional abnormalities can indicate disease progression. Haematologists may repeat this test to assess treatment response or to check for minimal residual disease.
How to Prepare and What to Expect
Preparation for this test involves steps for both the blood draw and the bone marrow collection procedure. Your doctor or nurse will give you specific instructions beforehand.
Do You Need to Fast?
Fasting is not required for this test. If sedation is planned for the bone marrow collection, your doctor may ask you to avoid food or drink for a few hours before the procedure. Always follow the instructions given by your healthcare team.
Practical Tips Before Your Test
Please 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 all medications, supplements, and herbal products you are taking; do not stop any medicine without medical advice
- Tell your doctor if you have a bleeding disorder or are on blood-thinning medications
- Wear loose, comfortable clothing on the day of the procedure
- Arrange for someone to take you home if sedation or relaxation medicine is given during the bone marrow collection
- Stay well hydrated before your appointment
Step-by-Step Procedure
Two samples are collected for this test: a bone marrow sample and a peripheral blood sample.
Bone Marrow Collection:
- You will be asked to lie on your side or stomach. The collection is usually done from the back of the hip bone (iliac crest).
- The skin over the site is cleaned, and local anaesthetic is injected to numb the area and the surface of the bone.
- A specialised needle is inserted into the bone to collect approximately 3 ml of bone marrow into a sodium heparin (green top) tube.
- The needle is removed, and gentle pressure is applied to the site to minimise bleeding.
Peripheral Blood Collection:
- A small blood sample of approximately 3 ml is drawn from a vein in your arm into an EDTA (lavender top) tube.
- Both samples are labelled, stored refrigerated between 2 and 8 degrees Celsius, and sent to the cytogenetics laboratory for FISH analysis.
Factors That Can Affect Accuracy
The following factors may influence the reliability of your results:
- Sample quality and freshness; proper storage and transport are essential
- Low cell count in the sample, which may limit analysis
- Mosaicism, where only a fraction of cells carry the deletion, which can affect detection sensitivity
- The deletion may be present in bone marrow cells but absent from peripheral blood granulocytes, making bone marrow the more sensitive sample
- Prior chemotherapy or radiotherapy, which may cause additional chromosomal changes
Understanding Your Deletion 20q MDS BloodBone Marrow Test Results
Results from this test require careful interpretation by a qualified haematologist or oncologist. They are reviewed alongside bone marrow morphology, other cytogenetic findings, and your overall clinical picture.
| Parameter | Normal | Abnormal |
|---|---|---|
| Cells with 20q12 deletion | Below laboratory-specific cutoff (typically below 5 to 10%) | Above cutoff indicates presence of an abnormal cell clone |
| Cells with 20q13.1 deletion | Below laboratory-specific cutoff | Above cutoff indicates deletion in this chromosomal segment |
A positive result means an abnormal clone with 20q deletion has been detected. When isolated del(20q) is the sole chromosomal abnormality, it is generally associated with a more favourable prognosis and lower risk of progression to acute myeloid leukaemia. When additional chromosomal changes are present alongside the deletion, the outlook may be less favourable.
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
Bone marrow samples are significantly more sensitive than peripheral blood for detecting del(20q). In some patients, the deletion is visible in bone marrow cells but cannot be detected in peripheral blood granulocytes. If only a blood sample is tested and the result is negative, your doctor may still recommend a bone marrow sample to confirm the finding. Prior chemotherapy or radiotherapy can introduce secondary chromosomal changes that may complicate interpretation.
How to Maintain Healthy Levels
While this test detects a chromosomal change that cannot be influenced by lifestyle alone, the following general steps support your overall wellbeing during monitoring:
- Attend all scheduled follow-up appointments so your doctor can track blood counts and disease status over time
- Eat a balanced diet that includes foods rich in iron, folate, and vitamin B12 to support blood cell production
- Report any new or worsening symptoms, such as increased fatigue, unusual bruising, or frequent infections, to your doctor without delay
Lupin Diagnostics Deletion 20q MDS BloodBone Marrow Test Price
The Deletion 20q MDS BloodBone marrow test is priced starting at ₹4,900 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available, as bone marrow collection must be performed by a trained medical professional in a clinical setting.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 4900 |
| CHENNAI | 4900 |
| HYDERABAD | 4900 |
| KOLKATA | 4900 |
| NAVI MUMBAI | 4900 |
| PUNE | 4900 |
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 Deletion 20q MDS BloodBone marrow test at Lupin Diagnostics:
- 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
A 20q deletion is a chromosomal abnormality where a segment of the long arm of chromosome 20 is missing. It is a recurrent finding in MDS, polycythaemia vera, and related blood disorders. Detecting this deletion helps confirm a diagnosis and provides important information about prognosis.
Bone marrow is the preferred sample. In some patients, the deletion is present in bone marrow cells but cannot be found in peripheral blood cells. Collecting both samples, as done in this test, gives the most complete picture.
An isolated 20q deletion, when it is the only chromosomal abnormality found, is generally linked to a more favourable prognosis and a lower risk of progression to acute myeloid leukaemia. Your haematologist will interpret this finding alongside all your other clinical information.
The area is numbed with local anaesthetic before the procedure. Since the inside of the bone cannot be fully numbed, you may feel a brief, sharp sensation when the marrow is collected. Sedation may be offered to help you stay comfortable. The procedure typically takes around 30 minutes.
The Deletion 20q MDS BloodBone marrow test procedure requires your clinical background because the cytogenetics team needs to understand your symptoms, previous blood counts, and any prior treatment before analysing and reporting your results. Incomplete information can affect interpretation.
The frequency depends on your individual diagnosis and treatment plan. It may be repeated to monitor how the disease is responding to treatment, to check for progression, or to assess minimal residual disease. Your haematologist will advise on the right schedule for you.
This test is an important part of the diagnostic process but is not used in isolation. A confirmed MDS diagnosis is made by combining FISH results with bone marrow morphology, a complete blood count, and other clinical findings. Your specialist will review all results together before reaching a conclusion.
Deletion 20q MDS BloodBone Marrow Test: Booking, Price, and Results
