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t(4;11) (q21;q23) (MLL-AF4) PCR Qualitative Test

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t(4;11) (q21;q23) (MLL-AF4) PCR Qualitative Test

Short Name: MLL-AF4 PCR Qualitative Test

Also known as: MLL-AF4 Fusion Gene Test, t(4;11) Translocation PCR Test, MLL-AF4 RT-PCR Test, Mixed Lineage Leukemia-AF4 Fusion Detection, KMT2A-AFF1 Fusion Gene Test

t(4;11) (q21;q23) (MLL-AF4) PCR Qualitative Test test available at DNA Labs India for ₹5,000. Uses Real Time PCR (RT-PCR) on Whole blood / Bone marrow samples. Results in Sample accepted on Monday or Thursday by 11:00 AM. Reports available by Wednesday or Saturday. Reports are delivered via online portal, email, and WhatsApp.. Free home collection in 300+ cities across India.

PCR QualitativeAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the MLL-AF4 PCR Qualitative Test is to detect the presence or absence of the t(4;11)(q21;q23) chromosomal translocation resulting in the MLL-AF4 gene fusion. This test aids in confirming a diagnosis of MLL-AF4-positive Acute Lymphoblastic Leukemia (ALL), assists in risk stratification and prognosis assessment, guides treatment planning decisions, and helps monitor treatment response and detect minimal residual disease. It is especially important in infant ALL, where this translocation is present in over 80% of cases and is associated with a particularly aggressive disease course and poor outcomes.

Test Code
1423
CPT Code
81177
ICD Code
C91.0
Price
₹5,000
Sample Type
Whole blood / Bone marrow
Result Time
Sample accepted on Monday or Thursday by 11:00 AM. Reports available by Wednesday or Saturday. Reports are delivered via online portal, email, and WhatsApp.
Fasting Required
No
Method
Real Time PCR (RT-PCR)
Step 1

Sample Collection

Ensure a detailed clinical history including presenting symptoms, CBC results, bone marrow findings, and any prior treatment history is provided. Verify the patient's identity and the test requisition form. Confirm that the correct anticoagulant (EDTA) tube is available for collection.

Method: Venipuncture (whole blood) / Bone marrow aspiration

Step 2

Laboratory Analysis

Collect 3 mL (minimum 2 mL) of whole blood via venipuncture or a bone marrow aspirate sample directly into a Lavender Top (EDTA) tube. Mix the sample gently by inverting the tube 8-10 times immediately after collection to prevent clotting. Label the tube correctly with patient details, date, and time of collection.

Step 3

Report Delivery

Store the sample at 2-8°C (refrigerated) immediately after collection. Do NOT freeze the sample. Ship the sample to the laboratory under refrigerated conditions as soon as possible. Ensure the sample reaches the laboratory within the specified stability window: Room Temperature up to 6 hours, Refrigerated up to 72 hours.

Timeline: Sample accepted on Monday or Thursday by 11:00 AM. Reports available by Wednesday or Saturday. Reports are delivered via online portal, email, and WhatsApp.

Patient Instructions

1
Before the Test:No specific patient preparation such as fasting is required. However, a detailed clinical history including CBC results, bone marrow findings, and prior treatment history must be provided. Inform the healthcare provider about any recent blood transfusions, medications, or ongoing treatments.
2
During the Test:The test is performed on a blood or bone marrow sample. A healthcare professional will collect 3 mL of whole blood via venipuncture or obtain a bone marrow aspirate sample into an EDTA tube. The sample is then transported to the laboratory under refrigerated conditions for DNA extraction and PCR analysis.
3
After the Test:After sample collection, pressure will be applied to the venipuncture site to prevent bleeding. A small bruise may develop at the collection site, which typically resolves within a few days. For bone marrow aspiration, mild soreness at the aspiration site is normal. Results will be delivered via the online portal, email, or WhatsApp as per your preference.

About This Test

Who Should Get This Test

The purpose of the MLL-AF4 PCR Qualitative Test is to detect the presence or absence of the t(4;11)(q21;q23) chromosomal translocation resulting in the MLL-AF4 gene fusion. This test aids in confirming a diagnosis of MLL-AF4-positive Acute Lymphoblastic Leukemia (ALL), assists in risk stratification and prognosis assessment, guides treatment planning decisions, and helps monitor treatment response and detect minimal residual disease. It is especially important in infant ALL, where this translocation is present in over 80% of cases and is associated with a particularly aggressive disease course and poor outcomes.

How to Prepare

  • Collect 3 mL (2 mL min.) of whole blood or bone marrow in 1 Lavender Top (EDTA) tube
  • Invert the tube gently 8-10 times immediately after collection
  • Ship the sample refrigerated (2-8°C); DO NOT FREEZE
  • Clinical history is mandatory and must accompany the sample
  • Submit sample on Monday or Thursday by 11:00 AM for timely report delivery
  • Ensure proper labeling of the sample with patient name, date, and time
  • Avoid heparinized tubes as heparin can inhibit PCR amplification

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"The t(4;11)(q21;q23) MLL-AF4 translocation is one of the most clinically significant genetic abnormalities in Acute Lymphoblastic Leukemia. It is detected in over 80% of infant ALL cases and carries a poor prognosis. Early detection through qualitative PCR allows clinicians to risk-stratify patients accurately and initiate targeted treatment protocols promptly. I recommend this test for any patient—especially infants and young children—presenting with clinical and laboratory features suggestive of ALL. Confirming the MLL-AF4 fusion status is essential for treatment planning, prognostic assessment, and minimal residual disease monitoring."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood / Bone marrow
Sample Volume3 mL (2 mL min.)
ContainerLavender Top (EDTA) tube
Collection MethodVenipuncture (whole blood) / Bone marrow aspiration

Sample Stability

Room Temperature (15-25°C)
Refrigerated (2-8°C)
Frozen (-20°C or below)
Sample Rejection Criteria:
  • Sample collected in heparinized (Green Top) tube
  • Clotted or hemolyzed sample
  • Sample received frozen
  • Sample volume less than 2 mL
  • Unlabeled or mislabeled sample
  • Sample received without clinical history or test requisition form
  • Sample exceeding the stability time limit for the storage condition

Understanding Your Results

The MLL-AF4 PCR Qualitative Test reports results as either 'Detected' or 'Not Detected' for the presence of the MLL-AF4 fusion transcript. The following guide provides general interpretation; however, all results must be reviewed by a qualified hematologist or oncologist in the context of clinical findings and other diagnostic investigations.
📊

Detected

High

📊

Not Detected

Low

⚠️ When to Consult a Doctor:

Consult a haemato-oncologist immediately if the MLL-AF4 PCR result is 'Detected,' as this indicates an aggressive form of Acute Lymphoblastic Leukemia requiring prompt treatment initiation. Also consult your doctor if the result is 'Not Detected' but clinical symptoms of ALL persist—such as persistent fever, fatigue, unexplained weight loss, bone pain, easy bruising, frequent infections, or swollen lymph nodes—as additional diagnostic tests may be required. If you or your child has been diagnosed with ALL and this test was ordered for monitoring purposes, discuss the results with your treating oncologist to assess treatment response and plan next steps.

Limitations

  • ⚠This is a qualitative test and does not quantify the level of MLL-AF4 fusion transcript
  • ⚠A negative result does not completely exclude the presence of the t(4;11) translocation if the sample quality is suboptimal or the leukemic blast count is very low
  • ⚠This test specifically detects the MLL-AF4 fusion and does not identify other MLL gene rearrangements
  • ⚠Results should always be interpreted in conjunction with clinical findings, morphological assessment, immunophenotyping, and conventional cytogenetics
  • ⚠Novel or rare breakpoint variants within the MLL or AF4 genes may not be detected by standard PCR primer sets

Risks & Considerations

  • ●For blood sample: Minimal risk associated with venipuncture, including slight pain, bruising, or rarely infection at the collection site
  • ●For bone marrow aspiration: Pain at the aspiration site, minor bleeding, and rarely infection; performed under local anesthesia to minimize discomfort
  • ●No radiation exposure is involved in this test
  • ●The PCR analysis itself poses no direct risk to the patient

Interfering Factors

  • ●Degraded or improperly stored samples may yield false-negative results
  • ●Heparinized samples can interfere with PCR amplification; EDTA is the required anticoagulant
  • ●Contamination during sample collection or processing may lead to false-positive results
  • ●Very low tumor burden or samples with insufficient lymphoblasts may affect detection sensitivity
  • ●Recent blood transfusions may dilute the leukemic cell population in the sample

Compare With Similar Tests

Testt(4;11) (q21;q23) (MLL-AF4) PCR Qualitative TestCytogenetic Analysis (Karyotyping)FISH for MLL RearrangementMLL-AF4 PCR Quantitative Test
Comparisont(4;11) (q21;q23) (MLL-AF4) PCR Qualitative TestCytogenetic analysis can identify the t(4;11) translocation at the chromosomal level but requires dividing cells and has lower sensitivity. MLL-AF4 PCR offers higher sensitivity and faster turnaround time for detecting the specific fusion transcript.FISH (Fluorescence In Situ Hybridization) can detect MLL gene rearrangements including t(4;11) at the cellular level. While FISH can identify various MLL partners, the PCR test specifically detects the MLL-AF4 fusion with higher sensitivity, particularly useful for minimal residual disease monitoring.The quantitative version of this test measures the exact level of MLL-AF4 fusion transcript, which is valuable for monitoring treatment response and minimal residual disease. The qualitative test provides a simpler 'Detected' or 'Not Detected' result, suitable for initial diagnosis confirmation.

Frequently Asked Questions

What is the t(4;11)(q21;q23)(MLL-AF4) PCR Qualitative Test?
The t(4;11)(q21;q23)(MLL-AF4) PCR Qualitative Test is a molecular diagnostic test that detects the presence of the MLL-AF4 gene fusion caused by a chromosomal translocation between chromosomes 4 and 11. This fusion is strongly associated with Acute Lymphoblastic Leukemia (ALL), particularly in infants. The test uses Real-Time PCR technology to identify the fusion transcript in blood or bone marrow samples.
Who should get the MLL-AF4 PCR Qualitative Test done?
This test is recommended for patients—especially infants and young children—who are suspected of having Acute Lymphoblastic Leukemia based on clinical symptoms (fatigue, fever, bone pain, easy bruising, frequent infections), abnormal CBC results, or bone marrow findings showing increased lymphoblasts. It is also used for monitoring known MLL-AF4-positive ALL patients during and after treatment.
What sample is required for the MLL-AF4 PCR Qualitative Test?
The test requires a 3 mL (minimum 2 mL) sample of either whole blood or bone marrow aspirate collected in a Lavender Top (EDTA) tube. The sample must be shipped refrigerated and should never be frozen. A detailed clinical history must accompany the sample.
How is the MLL-AF4 PCR Qualitative Test performed?
The sample is first processed in the laboratory where DNA/RNA is extracted from the blood or bone marrow cells. The extracted nucleic acid is then subjected to Real-Time Polymerase Chain Reaction (RT-PCR) using specific primers designed to detect the MLL-AF4 fusion transcript. If the fusion is present, it is amplified and detected; if absent, no amplification signal is observed.
What does a positive (Detected) result mean?
A 'Detected' result confirms the presence of the MLL-AF4 fusion gene, indicating that the patient has the t(4;11) chromosomal translocation. This is strongly associated with Acute Lymphoblastic Leukemia (ALL) and is considered a high-risk feature. Immediate consultation with a haemato-oncologist is recommended for further evaluation and treatment planning.
What does a negative (Not Detected) result mean?
A 'Not Detected' result means the MLL-AF4 fusion transcript was not found in the sample. This does not completely rule out ALL, as the patient may have a different genetic subtype of leukemia. If clinical suspicion persists, additional tests such as cytogenetic analysis, FISH, or other molecular panels should be considered in consultation with your doctor.
What is the cost of the MLL-AF4 PCR Qualitative Test at DNA Labs India?
DNA Labs India offers the t(4;11)(q21;q23)(MLL-AF4) PCR Qualitative Test at a cost of INR 5000. This price includes free home sample collection across India, laboratory analysis, and digital report delivery via online portal, email, or WhatsApp.
Is fasting required for the MLL-AF4 PCR Qualitative Test?
No, fasting is not required for this test. You can eat and drink normally before sample collection. However, a detailed clinical history including CBC results, bone marrow findings, and prior treatment information is mandatory and must be provided with the sample.
How long does it take to get the results of the MLL-AF4 PCR Qualitative Test?
Results are typically available within 3 working days. Samples submitted on Monday by 11:00 AM will have reports available by Wednesday, and samples submitted on Thursday by 11:00 AM will have reports available by Saturday. Reports are delivered via the online portal, email, and WhatsApp.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the MLL-AF4 PCR Qualitative Test across India. You can book the test online, and a trained phlebotomist will visit your home to collect the sample. The service is available in all major cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more.
What is the significance of the MLL-AF4 fusion in Acute Lymphoblastic Leukemia?
The MLL-AF4 fusion resulting from the t(4;11) translocation is one of the most important genetic abnormalities in ALL. It is found in over 80% of infant ALL cases and is the most frequent MLL translocation in ALL. This fusion is associated with a very high white blood cell count at diagnosis, a poor response to standard chemotherapy, and a poor overall prognosis. It is rarely seen in AML. Accurate detection is essential for risk-adapted treatment strategies.
Can the MLL-AF4 PCR Qualitative Test be used for monitoring treatment response?
While this qualitative test is primarily used for initial diagnosis confirmation, it can also provide useful information about the presence or absence of the MLL-AF4 fusion during treatment. For precise quantification of minimal residual disease (MRD) and treatment monitoring, the MLL-AF4 PCR Quantitative Test is recommended, as it measures the exact level of fusion transcript in the sample.
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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