Trisomy 12 (CLL) Test
Short Name: Trisomy 12 FISH
Also known as: Trisomy 12 FISH Test, CLL Trisomy 12 Detection, Chromosome 12 Trisomy Analysis, FISH for CLL Cytogenetics
Trisomy 12 (CLL) Test test available at DNA Labs India for ₹5,250. Uses FISH (Fluorescence In Situ Hybridization) on Bone Marrow / Peripheral Blood samples. Results in Results are typically available within 3–4 working days after sample receipt 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 Trisomy 12 (CLL) FISH test is performed to detect the presence of an extra copy of chromosome 12 in patients suspected of or diagnosed with Chronic Lymphocytic Leukemia. This test serves multiple clinical purposes: it aids in confirming a CLL diagnosis when combined with morphological and immunophenotypic findings, helps in prognostic risk stratification, guides treatment decisions, and allows monitoring of disease progression or response to therapy. Trisomy 12 in CLL is associated with an intermediate clinical prognosis and may influence the choice of chemoimmunotherapy or targeted agents.
- Test Code
- 3235
- CPT Code
- 88271
- ICD Code
- C91.1
- Price
- ₹5,250
- Sample Type
- Bone Marrow / Peripheral Blood
- Result Time
- Results are typically available within 3–4 working days after sample receipt at the laboratory.
- Fasting Required
- No
- Method
- FISH (Fluorescence In Situ Hybridization)
Sample Collection
A doctor's prescription is required. Inform the phlebotomist about any anticoagulant therapy. No fasting is required. Ensure the sample is collected in a sodium heparin vacutainer as specified.
Method: Venipuncture / Bone Marrow Aspiration
Laboratory Analysis
Peripheral blood (2 ml) will be drawn via venipuncture into a sodium heparin vacutainer. In cases where bone marrow is required, the procedure will be performed by a trained hematologist under local anaesthesia.
Report Delivery
Apply pressure to the puncture site for 3–5 minutes. The sample will be transported at ambient temperature to the laboratory. Avoid strenuous activity with the collection arm for a few hours.
Timeline: Results are typically available within 3–4 working days after sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The Trisomy 12 (CLL) FISH test is performed to detect the presence of an extra copy of chromosome 12 in patients suspected of or diagnosed with Chronic Lymphocytic Leukemia. This test serves multiple clinical purposes: it aids in confirming a CLL diagnosis when combined with morphological and immunophenotypic findings, helps in prognostic risk stratification, guides treatment decisions, and allows monitoring of disease progression or response to therapy. Trisomy 12 in CLL is associated with an intermediate clinical prognosis and may influence the choice of chemoimmunotherapy or targeted agents.
How to Prepare
- Collect 2 ml peripheral blood or bone marrow in a sodium heparin vacutainer
- Do not use EDTA or other anticoagulants for this test
- Label the sample clearly with patient details and date/time of collection
- Transport the sample at ambient temperature (15–25°C)
- Ensure the sample reaches the laboratory within 24 hours of collection
- Avoid freezing the sample
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Trisomy 12 is one of the most frequently detected cytogenetic abnormalities in Chronic Lymphocytic Leukemia, found in approximately 15–20% of CLL cases. Identifying this abnormality through FISH helps in risk stratification and treatment planning. Patients with isolated Trisomy 12 generally have an intermediate prognosis. This test should be interpreted alongside other prognostic markers such as IGHV mutation status, TP53 deletion, and CD38 expression for a comprehensive CLL workup."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in EDTA or other non-heparin anticoagulants
- Haemolysed or clotted sample
- Sample received after 48 hours of collection
- Unlabelled or mislabelled sample
- Insufficient sample volume (less than 1 ml)
Understanding Your Results
Positive for Trisomy 12
Intermediate-risk CLL. May influence treatment planning and monitoring frequency.
Negative for Trisomy 12
Absence of Trisomy 12 does not rule out CLL. Full FISH panel and additional workup recommended.
Inconclusive / Insufficient cells
Repeat sample collection and testing recommended. Consider bone marrow aspirate if peripheral blood yield is low.
Consult your hematologist or oncologist if your test is positive for Trisomy 12, if results are inconclusive, or if you have persistent lymphocytosis, unexplained lymphadenopathy, fatigue, weight loss, night sweats, or frequent infections. Early consultation allows for comprehensive prognostic evaluation and timely treatment planning.
Limitations
- ⚠FISH detects only the specific chromosomal abnormality targeted by the probe; it does not provide a full karyotype
- ⚠May not detect low-level mosaicism if the percentage of abnormal cells is below the detection threshold
- ⚠Results should be interpreted in conjunction with clinical findings, CBC, flow cytometry, and other prognostic markers
- ⚠Cannot distinguish between clonal and non-clonal Trisomy 12 without additional cytogenetic analysis
- ⚠Bone marrow samples may be preferred over peripheral blood in certain clinical scenarios for higher sensitivity
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Slight risk of infection at the puncture site (very rare)
- ●If bone marrow is collected: localized pain, minor bleeding, or infection at the biopsy site (uncommon)
Interfering Factors
- ●Sample collected in EDTA instead of sodium heparin may compromise FISH results
- ●Delayed sample processing (beyond 24–48 hours) may reduce cell viability and signal quality
- ●Low tumor cell burden in the sample may lead to false-negative results
- ●Concurrent infections or recent chemotherapy may affect cell populations
- ●Technical issues such as inadequate probe hybridization or overlapping nuclei
Compare With Similar Tests
| Test | Trisomy 12 (CLL) | CLL FISH Panel | IGHV Mutation Status | TP53 Mutation Analysis | Flow Cytometry for CLL |
|---|---|---|---|---|---|
| Comparison | Trisomy 12 (CLL) |
Frequently Asked Questions
What is Trisomy 12 in CLL?
How is the Trisomy 12 (CLL) test performed?
Is fasting required before the Trisomy 12 test?
What sample type is needed for this test?
How long does it take to get the results?
What does a positive Trisomy 12 result mean?
What does a negative Trisomy 12 result mean?
Is Trisomy 12 in CLL curable?
Does DNA Labs India offer home sample collection for this test?
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Can this test detect other chromosomal abnormalities in CLL?
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