del5q (Monosomy 5) by FISH Test: Booking, Price, and Results
About del5q (Monosomy 5) by FISH Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | 5q Deletion FISH, del(5q) FISH, Monosomy 5 FISH, 5q- Syndrome FISH, EGR1 Deletion FISH |
| Sample Type | Bone marrow and peripheral blood |
| Fasting Required | No fasting required |
| Report Time | 3 days |
| Recommended For | Adults with suspected myelodysplastic syndromes or acute myeloid leukaemia; more common in older adults and females |
| Price | Starting at ₹5,150 |
What is a del5q (Monosomy 5) by FISH Test?
The del5q (Monosomy 5) by FISH test is a specialised genetic test that checks for the deletion of a segment on the long arm of chromosome 5. FISH stands for Fluorescence In Situ Hybridisation, a laboratory technique that uses fluorescent probes to detect specific chromosomal changes. Doctors order this test when they suspect blood disorders such as myelodysplastic syndrome (MDS) or acute myeloid leukaemia (AML). It is also known as the 5q Deletion FISH or EGR1 Deletion FISH test.
What Does a del5q (Monosomy 5) by FISH Test Measure?
The del5q by FISH test examines cells from bone marrow and peripheral blood for specific chromosomal changes on chromosome 5. The table below outlines the key targets the test analyses.
| Target | What It Detects |
|---|---|
| del(5q) deletion | Checks whether a portion of the long arm of chromosome 5 is missing |
| Monosomy 5 | Identifies complete loss of one copy of chromosome 5 |
| EGR1 gene deletion | Detects deletion of the EGR1 tumour suppressor gene at chromosome location 5q31.2 |
| Percentage of abnormal cells | Estimates how many cells in the sample carry the chromosomal change |
The EGR1 gene normally helps regulate cell growth. When it is missing or has only one working copy, this can contribute to the development of MDS or AML. Each parameter gives the treating doctor important information about the nature and extent of the chromosomal abnormality.
Why is a del5q (Monosomy 5) by FISH Test Done?
A haematologist or oncologist may order the del5q (Monosomy 5) by FISH test for several reasons, including initial diagnosis, prognosis assessment, and treatment planning.
Common Symptoms That May Require This Test
Certain symptoms may prompt a doctor to request this test. These include:
- Persistent fatigue and weakness with no clear cause
- Unusually pale appearance (pallor) linked to anaemia
- Recurrent or frequent infections
- Easy bruising or bleeding that is disproportionate to the cause
- Shortness of breath during normal activity
- Low blood cell counts detected on a routine blood test
Conditions This Test Can Help Detect
The del5q FISH test helps identify or confirm the following conditions:
- 5q minus (5q-) syndrome, a subtype of MDS where red blood cell development is particularly affected
- Myelodysplastic syndromes (MDS), a group of disorders where immature blood cells fail to develop normally
- Acute myeloid leukaemia (AML), especially cases with myelodysplasia-related changes
- Myeloproliferative disorders associated with chromosome 5 deletions
del5q (Monosomy 5) by FISH Test for Chronic Disease Monitoring
The del5q by FISH test is used beyond initial diagnosis to track how a patient responds to treatment. MDS with del(5q) is known to respond well to specific targeted therapies, and FISH testing is used to assess cytogenetic response over time. A repeat bone marrow aspiration and genetic study may be performed if there is a suspicion of disease progression or if treatment is not producing the expected response.
How to Prepare and What to Expect
Preparing for the del5q (Monosomy 5) by FISH test involves a few simple steps, particularly if a bone marrow sample is needed.
Do You Need to Fast?
No fasting is required for this test. You may eat and drink normally before your appointment.
Practical Tips Before Your Test
The following tips will help ensure the sample is collected smoothly and the results are accurate:
- Bring a detailed clinical history including your symptoms, previous test results, and family history, as this is required for the test
- Inform your doctor of all medications you are currently taking, as some can affect bone marrow cell health
- Wear loose, comfortable clothing that allows easy access to the collection site
- Arrange for someone to accompany you, especially if a bone marrow procedure is scheduled
- Bring any previous blood or bone marrow test reports to your appointment
Step-by-Step Procedure
Two sample types are required for this test: bone marrow and peripheral blood. Here is what to expect.
Bone Marrow Sample:
- A doctor will clean and numb the collection area, usually the back of the hip bone, with a local anaesthetic.
- A thin needle is used to withdraw a small bone marrow aspirate of approximately 3 ml into a sodium heparin (green-top) tube.
- The tube is inverted gently to mix the sample with the anticoagulant.
Peripheral Blood Sample:
- A trained phlebotomist collects 3 ml of blood from a vein in your arm into an EDTA (lavender-top) tube.
- Both samples are labelled and stored at 2 to 8 degrees Celsius before being sent to the laboratory.
- In the lab, fluorescent probes are applied to the cells. A specialist examines the cells under a fluorescence microscope and a qualified pathologist or cytogeneticist interprets the findings.
Factors That Can Affect Accuracy
The following factors may influence the quality or reliability of results:
- Poor sample viability due to delays in transport to the laboratory
- Incorrect anticoagulant or collection tube used
- Freezing or centrifuging the specimen, which is not acceptable for this test
- Grossly compromised sample quality
- Inadequate clinical history provided alongside the sample
Understanding Your del5q (Monosomy 5) by FISH Test Results
Results from the del5q (Monosomy 5) by FISH test are interpreted by a specialist in the context of your clinical picture. The table below provides a general guide to what the findings may indicate.
| Finding | Interpretation |
|---|---|
| Negative (no deletion) | Two normal copies of the chromosome 5q region detected; no deletion found |
| Positive (deletion detected) | One or more cells show loss of the 5q region, consistent with del(5q) or monosomy 5 |
| Isolated del(5q) | Associated with 5q minus syndrome; generally considered a more favourable prognostic finding in MDS |
| del(5q) with additional changes | May be associated with AML or more complex chromosomal abnormalities; prognostic significance varies |
"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 factors may affect how results are interpreted. In patients with isolated del(5q), the presence of an acquired TP53 gene mutation may indicate a less favourable outlook and may influence treatment decisions. Not all patients with del(5q) respond equally to targeted therapy; additional chromosomal changes or TP53 mutations can affect treatment response and disease progression.
How to Maintain Healthy Levels
While this test detects genetic changes rather than values that can be adjusted through lifestyle, general supportive health habits remain important:
- Attend all scheduled follow-up appointments with your haematologist and do not skip monitoring tests
- Report new or worsening symptoms such as increased tiredness, unexplained bleeding, or frequent infections to your doctor promptly
- Maintain a balanced diet and adequate rest to support overall wellbeing during treatment and monitoring
Lupin Diagnostics del5q (Monosomy 5) by FISH Test Price
The del5q by FISH test is priced starting at ₹5,150 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test due to the specialised nature of sample collection.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 5150 |
| CHENNAI | 5150 |
| HYDERABAD | 5150 |
| KOLKATA | 5150 |
| NAVI MUMBAI | 5150 |
| PUNE | 5150 |
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 del5q by FISH test online 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
The del5q (Monosomy 5) by FISH test detects whether a segment of chromosome 5's long arm is deleted. This chromosomal change is closely associated with myelodysplastic syndromes and certain types of acute myeloid leukaemia. Doctors use it for diagnosis, prognosis, and to guide treatment decisions.
This test requires two samples: a bone marrow aspirate collected in a sodium heparin tube and a peripheral blood sample collected in an EDTA tube. Bone marrow aspirate is the preferred sample for detecting chromosomal changes in blood disorders.
In most cases, the 5q deletion found in MDS and related blood disorders is acquired during a person's lifetime and is not passed down through families. It arises as a change in blood cells over time. If you have concerns about inherited genetic conditions, speak with your doctor or a genetic counsellor.
At Lupin Diagnostics, reports for the del5q by FISH test are available within 3 days from the date of sample receipt. The exact time may vary slightly depending on sample quality and laboratory scheduling.
A positive result means that a deletion of the 5q region of chromosome 5 has been detected in the sampled cells. The clinical significance depends on whether the deletion is isolated or accompanied by other chromosomal changes. Your haematologist will explain what this means for your individual situation and discuss any next steps.
Yes, the del5q by FISH test online booking is available through the Lupin Diagnostics website. As this test requires specialised sample collection, particularly bone marrow aspiration, it must be performed at a Lupin Diagnostics centre. Please book in advance and bring your clinical history documentation.
Clinical history helps the pathologist and cytogeneticist interpret the FISH results accurately in the context of your symptoms, previous test findings, and diagnosis. Without this information, the significance of chromosomal findings may be harder to assess correctly. Please ensure you bring all relevant records when you visit the centre.
del5q (Monosomy 5) by FISH Test: Booking, Price, and Results
