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FISH - MDS Panel - Chromosomes 5q, 7q, 8q & 20q Test

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FISH - MDS Panel - Chromosomes 5q, 7q, 8q & 20q Test

Short Name: FISH MDS Panel

Also known as: MDS FISH Panel, FISH for MDS, Chromosomal Abnormality Panel for MDS, MDS Cytogenetic FISH Panel, FISH Del(5q) Del(7q) Trisomy 8 Del(20q) Test

FISH - MDS Panel - Chromosomes 5q, 7q, 8q & 20q Test test available at DNA Labs India for ₹12,000. Uses Fluorescence In Situ Hybridization (FISH), Molecular Cytogenetics on Whole Blood or Bone Marrow Aspirate samples. Results in Sample accepted daily by 4:00 PM. Report available within 4 working days. Results are delivered via Online Portal, Email, and WhatsApp.. Free home collection in 300+ cities across India.

Molecular Cytogenetic / FISHAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The primary purpose of the FISH MDS Panel is to identify recurrent chromosomal abnormalities associated with Myelodysplastic Syndromes. These findings aid in diagnosis confirmation, WHO subtype classification, prognostic stratification, treatment selection (such as lenalidomide for del(5q) syndrome), and disease monitoring during and after therapy.

Test Code
590
CPT Code
88271, 88275
ICD Code
D46.9
Price
₹12,000
Sample Type
Whole Blood or Bone Marrow Aspirate
Result Time
Sample accepted daily by 4:00 PM. Report available within 4 working days. Results are delivered via Online Portal, Email, and WhatsApp.
Fasting Required
No
Method
Fluorescence In Situ Hybridization (FISH), Molecular Cytogenetics
Step 1

Sample Collection

Ensure the Chromosome & FISH Analysis Requisition Form (Form 17) is duly completed. Inform the physician about any ongoing treatments, prior chemotherapy, or recent transfusions that may affect results.

Method: Venipuncture (whole blood) or Bone Marrow Aspiration

Step 2

Laboratory Analysis

Sample is collected via venipuncture (5 mL whole blood) or bone marrow aspiration (4 mL). Blood or bone marrow is drawn directly into Green Top (Sodium Heparin) tubes. A minimum of 3 mL whole blood or 2 mL bone marrow is required.

Step 3

Report Delivery

Label the sample properly and transport at 18-22°C. Do not freeze or refrigerate. Ensure the sample reaches the laboratory within 48 hours of collection for optimal cell viability.

Timeline: Sample accepted daily by 4:00 PM. Report available within 4 working days. Results are delivered via Online Portal, Email, and WhatsApp.

Patient Instructions

1
Before the Test:Complete the mandatory Chromosome & FISH Analysis Requisition Form (Form 17). Inform your doctor about any medications, prior chemotherapy, or recent transfusions. No fasting is required. The physician will determine whether a blood sample or bone marrow aspirate is more appropriate.
2
During the Test:A blood sample (5 mL via venipuncture) or bone marrow aspirate (4 mL) is collected into sodium heparin (Green Top) tubes by a trained phlebotomist or physician. The procedure for bone marrow aspiration may involve local anesthesia and mild discomfort at the aspiration site.
3
After the Test:After blood collection, slight bruising at the puncture site may occur. For bone marrow aspiration, mild soreness at the aspiration site is common for 1-2 days. Results are typically available within 4 working days. Your physician will discuss the findings and next steps.

About This Test

Who Should Get This Test

The primary purpose of the FISH MDS Panel is to identify recurrent chromosomal abnormalities associated with Myelodysplastic Syndromes. These findings aid in diagnosis confirmation, WHO subtype classification, prognostic stratification, treatment selection (such as lenalidomide for del(5q) syndrome), and disease monitoring during and after therapy.

How to Prepare

  • Duly filled Chromosome & FISH Analysis Requisition Form (Form 17) is mandatory
  • Collect 5 mL (min. 3 mL) whole blood OR 4 mL (min. 2 mL) bone marrow in 2 Green Top (Sodium Heparin) tubes
  • Ship the sample at 18-22°C; DO NOT FREEZE
  • Avoid using EDTA tubes for this test
  • Ensure sample reaches the lab within 48 hours at room temperature
  • Free home sample collection available for online bookings across India

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"The FISH MDS Panel targeting chromosomes 5q, 7q, 8q, and 20q is an essential adjunct to conventional karyotyping in the evaluation of suspected MDS. Detection of del(5q) may indicate the 5q- syndrome subtype with a relatively favorable prognosis, while del(7q) or monosomy 7 is associated with a poorer outcome. Trisomy 8 and del(20q) are other recurrent abnormalities that help refine the WHO classification and inform treatment decisions, including eligibility for targeted therapies such as lenalidomide. I recommend this test for all patients with unexplained cytopenias and dysplastic bone marrow findings."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood or Bone Marrow Aspirate
Sample Volume5 mL (3 mL min.) whole blood OR 4 mL (2 mL min.) bone marrow
Container2 Green Top (Sodium Heparin) tubes
Collection MethodVenipuncture (whole blood) or Bone Marrow Aspiration

Sample Stability

Room Temperature (18-22°C)
Refrigerated (2-8°C)
Frozen
Sample Rejection Criteria:
  • Sample received in EDTA tubes instead of sodium heparin
  • Sample received frozen or at temperatures outside 18-22°C range
  • Sample volume below minimum requirement
  • Missing or incomplete Chromosome & FISH Analysis Requisition Form (Form 17)
  • Sample older than 48 hours at room temperature
  • Heavily hemolyzed or clotted sample

Understanding Your Results

The FISH MDS Panel results indicate whether specific chromosomal abnormalities on chromosomes 5q, 7q, 8q, and 20q are present in the patient's bone marrow or blood cells. A normal result shows the expected two-signal pattern for each probe. An abnormal result indicates the presence of deletions or gains in one or more of the targeted chromosomal regions. Results should always be interpreted by a qualified hematologist or oncologist in conjunction with clinical findings, morphology, and other laboratory data.
📊

No deletions or gains detected on chromosomes 5q, 7q, 8q, or 20q. This does not entirely exclude MDS, as other chromosomal or molecular abnormalities may be present.

Action: Correlate with clinical picture, CBC, bone marrow morphology, and consider conventional karyotyping or molecular testing.

📊

Deletion of the long arm of chromosome 5 identified. If isolated (sole abnormality), consistent with MDS with isolated del(5q) (5q- syndrome), which generally carries a favorable prognosis.

Action: Consider lenalidomide therapy. Monitor for disease progression and blast count.

📊

Deletion of 7q or loss of chromosome 7 is associated with poor prognosis and higher risk of AML transformation.

Action: Aggressive monitoring; consider allogeneic stem cell transplant evaluation if eligible.

📊

Extra copy of chromosome 8 or gain of 8q region. One of the most common abnormalities in MDS with intermediate prognostic significance.

Action: Integrate with IPSS-R scoring. Monitor for disease evolution.

📊

Deletion of the long arm of chromosome 20. When present as a sole abnormality, generally associated with favorable to intermediate prognosis.

Action: Monitor disease course. Correlate with morphology and clinical findings.

📊

Two or more chromosomal abnormalities identified. Generally associated with higher-risk MDS and poorer prognosis.

Action: Urgent hematological evaluation. Consider intensive treatment approaches including transplant evaluation.

⚠️ When to Consult a Doctor:

Consult your hematologist or oncologist if you experience persistent unexplained fatigue, shortness of breath, frequent infections, easy bruising, or unexplained bleeding. If you have been diagnosed with unexplained cytopenias or dysplastic bone marrow changes, discuss FISH testing with your physician. Abnormal FISH results should always be reviewed by a specialist who can integrate them with your complete clinical picture to guide management decisions.

Limitations

  • FISH detects only targeted chromosomal regions; it does not replace a comprehensive karyotype or genomic analysis
  • Results may be negative despite the presence of MDS if the targeted abnormalities are absent
  • Low-level mosaicism below the detection threshold (typically <5% of interphase nuclei) may not be identified
  • This panel does not detect point mutations, gene rearrangements, or cryptic translocations outside the targeted loci
  • Bone marrow samples generally provide higher sensitivity than peripheral blood samples for FISH analysis in MDS

Risks & Considerations

  • For blood draw: Minimal risk; slight bruising or discomfort at the puncture site
  • For bone marrow aspiration: Mild to moderate pain at the aspiration site, minor bleeding, or infection (rare)
  • No radiation exposure as FISH is a laboratory-based fluorescent microscopy technique

Interfering Factors

  • Sample contamination or improper handling during collection and transport
  • Insufficient viable cells in the sample
  • Use of incorrect anticoagulant (EDTA instead of sodium heparin)
  • Delayed sample processing beyond stability window
  • Sample stored at incorrect temperature (freezing destroys cell morphology)

Compare With Similar Tests

TestFISH - MDS Panel - Chromosomes 5q, 7q, 8q & 20q TestConventional KaryotypingNext-Generation Sequencing (NGS) for MDSBone Marrow Biopsy with MorphologyComplete Blood Count (CBC)
ComparisonFISH - MDS Panel - Chromosomes 5q, 7q, 8q & 20q TestKaryotyping analyzes the entire chromosome set but requires dividing cells and may take 2-3 weeks. FISH is faster (4 days) and more sensitive for detecting specific targeted abnormalities, but examines only selected chromosomal regions.NGS detects gene mutations (e.g., SF3B1, TET2, ASXL1) at the DNA level. FISH detects large chromosomal deletions and gains. Both are complementary; NGS provides molecular mutation data while FISH provides chromosomal structural information.Morphological examination identifies dysplastic changes and blast percentage. FISH complements morphology by identifying underlying chromosomal causes that are not visible on microscopic examination.CBC identifies cytopenias (low blood counts) that may suggest MDS but cannot confirm the diagnosis. FISH provides specific chromosomal information that helps confirm MDS and determine prognosis.

Frequently Asked Questions

What is the FISH MDS Panel for Chromosomes 5q, 7q, 8q & 20q?
The FISH MDS Panel is a molecular cytogenetic test that uses Fluorescence In Situ Hybridization (FISH) technology to detect specific chromosomal abnormalities—deletions or gains—on chromosomes 5q, 7q, 8q, and 20q in bone marrow or blood cells. These abnormalities are commonly associated with Myelodysplastic Syndromes (MDS) and help in diagnosis, prognosis, and treatment planning.
Who should undergo the FISH MDS Panel test?
This test is recommended for patients with unexplained persistent cytopenias (low blood counts), suspected or confirmed MDS, dysplastic bone marrow findings, or those requiring chromosomal characterization for risk stratification and treatment selection. Your hematologist or oncologist will determine if this test is appropriate for your condition.
What sample is required for this test?
The test requires 5 mL (minimum 3 mL) of whole blood or 4 mL (minimum 2 mL) of bone marrow aspirate collected in 2 Green Top (Sodium Heparin) tubes. The sample must be shipped at 18-22°C and must not be frozen.
Is fasting required before the FISH MDS Panel test?
No, fasting is not required for this test. However, a duly filled Chromosome & FISH Analysis Requisition Form (Form 17) is mandatory before sample collection.
What does a normal FISH MDS Panel result mean?
A normal result means no deletions or gains were detected on chromosomes 5q, 7q, 8q, or 20q using FISH probes. However, a normal FISH result does not completely exclude MDS, as other chromosomal or molecular abnormalities not covered by this panel may be present. Your physician will correlate the result with clinical findings and other tests.
What does an abnormal FISH MDS Panel result indicate?
An abnormal result indicates the presence of a chromosomal deletion or gain in one or more of the targeted regions. For example, del(5q) is associated with the 5q- syndrome subtype and may respond to lenalidomide, while del(7q) is linked to a poorer prognosis. The clinical significance depends on which abnormality is detected and whether it occurs alone or in combination.
How long does it take to get the FISH MDS Panel results?
Results are typically available within 4 working days from sample receipt. Samples accepted daily by 4:00 PM. Reports are delivered via Online Portal, Email, and WhatsApp.
What is the cost of the FISH MDS Panel test at DNA Labs India?
The cost of the FISH MDS Panel - Chromosomes 5q, 7q, 8q & 20q Test at DNA Labs India is INR 12,000. This price includes the test kit, sample collection, analysis, and report delivery. Free home sample collection is available for online bookings.
How is FISH different from conventional karyotyping?
Conventional karyotyping analyzes the complete set of chromosomes and requires actively dividing cells, taking 2-3 weeks for results. FISH uses fluorescent DNA probes to target specific chromosomal regions, providing faster results (typically 4 days) and higher sensitivity for detecting subtle deletions or gains in interphase (non-dividing) cells. Both tests are complementary and may be ordered together.
Is the FISH MDS Panel test painful?
If a blood sample is collected, the procedure involves a standard venipuncture with minimal discomfort, similar to a routine blood draw. If a bone marrow aspirate is required, local anesthesia is used and mild soreness at the aspiration site may persist for 1-2 days. The FISH laboratory procedure itself involves no patient contact.
Can FISH MDS Panel results guide treatment decisions?
Yes. Specific chromosomal abnormalities detected by this panel have direct treatment implications. For example, patients with isolated del(5q) may be candidates for lenalidomide therapy. Patients with del(7q) or complex abnormalities may require more aggressive management, including evaluation for allogeneic stem cell transplantation. FISH results contribute to the IPSS-R (Revised International Prognostic Scoring System) used to guide MDS management.
Does DNA Labs India offer home sample collection for the FISH MDS Panel test?
Yes, DNA Labs India offers free home sample collection for the FISH MDS Panel test when booked online. This service is available across numerous cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more. The test price of INR 12,000 applies nationwide.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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