Del(5q) (MDS) Test
Short Name: Del(5q) MDS
Also known as: 5q deletion syndrome, del(5q) FISH, MDS FISH panel
Del(5q) (MDS) Test test available at DNA Labs India for ₹5,250. Uses FISH (Fluorescence In Situ Hybridization) on Bone Marrow / Peripheral Blood samples. Results in Reports are typically available within 3-4 days after the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the Del(5q) MDS test is to detect the deletion of the long arm of chromosome 5 (5q) in patients suspected of having myelodysplastic syndromes. This genetic abnormality helps confirm the diagnosis of Del(5q) MDS, which has specific prognostic and therapeutic implications. The test aids in risk stratification, guiding treatment choices such as the use of lenalidomide, and monitoring disease progression. It is also used to differentiate Del(5q) MDS from other MDS subtypes, ensuring appropriate clinical management.
- Test Code
- 6080
- CPT Code
- 88271
- ICD Code
- D46.9
- Price
- ₹5,250
- Sample Type
- Bone Marrow / Peripheral Blood
- Result Time
- Reports are typically available within 3-4 days after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- FISH (Fluorescence In Situ Hybridization)
Sample Collection
No special preparation is required. A doctor's prescription is necessary for the test. Inform your doctor about any medications you are taking, especially blood thinners or chemotherapy agents.
Method: Venipuncture or Bone Marrow Aspiration
Laboratory Analysis
For peripheral blood, a standard venipuncture will be performed. For bone marrow, a small sample will be aspirated from the hip bone under local anesthesia. The procedure is generally safe and takes about 15-20 minutes.
Report Delivery
You may resume normal activities immediately. If bone marrow aspiration was performed, you might experience mild soreness at the site, which should resolve within a few days. Keep the site clean and dry.
Timeline: Reports are typically available within 3-4 days after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Del(5q) MDS test is to detect the deletion of the long arm of chromosome 5 (5q) in patients suspected of having myelodysplastic syndromes. This genetic abnormality helps confirm the diagnosis of Del(5q) MDS, which has specific prognostic and therapeutic implications. The test aids in risk stratification, guiding treatment choices such as the use of lenalidomide, and monitoring disease progression. It is also used to differentiate Del(5q) MDS from other MDS subtypes, ensuring appropriate clinical management.
How to Prepare
- Use Sodium Heparin Vacutainer for peripheral blood
- For bone marrow, use a heparinized syringe and transfer to a sterile tube
- Label the sample with patient name, date, and time of collection
- Transport the sample to the laboratory at ambient temperature (15-25°C) within 24 hours
- Do not freeze the sample
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Del(5q) MDS is a distinct subtype with a favorable prognosis. Early detection through FISH testing is crucial for appropriate management and treatment planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed samples
- Incorrect anticoagulant (e.g., EDTA instead of heparin)
- Insufficient sample volume
- Sample received after 48 hours of collection
- Unlabeled or mislabeled samples
Understanding Your Results
Positive for 5q deletion
Confirms Del(5q) MDS. Consider lenalidomide therapy and monitor for response.
Action: Discuss treatment options with oncologist.
Negative for 5q deletion
Does not exclude MDS; other genetic abnormalities may be present.
Action: Further testing may be needed based on clinical suspicion.
Additional chromosomal abnormalities
May indicate higher-risk MDS or progression.
Action: Comprehensive risk assessment and treatment planning required.
Consult your doctor if you experience persistent symptoms such as fatigue, pallor, easy bruising, bleeding, or recurrent infections. If you have been diagnosed with MDS, regular follow-up and repeat testing may be necessary to monitor disease status.
Limitations
- ⚠FISH only detects specific deletions; other genetic abnormalities may not be identified
- ⚠A negative result does not rule out MDS; further testing may be required
- ⚠Results should be interpreted in conjunction with clinical and morphological findings
- ⚠Test is not intended for screening of healthy individuals
Risks & Considerations
- ●Minimal risk of bleeding or infection at the collection site
- ●Bone marrow aspiration may cause temporary pain or discomfort
- ●Rare risk of nerve damage during bone marrow aspiration
Interfering Factors
- ●Recent blood transfusion may dilute abnormal cells, potentially leading to false-negative results
- ●Inadequate sample volume or improper storage may affect test accuracy
- ●Bone marrow samples may be more informative than peripheral blood in early MDS
- ●Concurrent use of growth factors or chemotherapy may alter cell populations
Compare With Similar Tests
| Test | Del(5q) (MDS) | Conventional Cytogenetics (Karyotype) | MDS FISH Panel | Next-Generation Sequencing (NGS) |
|---|---|---|---|---|
| Comparison | Del(5q) (MDS) |
Frequently Asked Questions
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