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Oncomine Juvenile Myelomonocytic Leukaemia (JMML) Panel Test

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Oncomine Juvenile Myelomonocytic Leukaemia (JMML) Panel Test

Short Name: Oncomine JMML Panel

Also known as: JMML Gene Panel Test, JMML Mutation Analysis Panel, Oncomine JMML Genetic Test, JMML Next-Generation Sequencing Panel

Oncomine Juvenile Myelomonocytic Leukaemia (JMML) Panel Test test available at DNA Labs India for ₹40,950. Uses Next-Generation Sequencing (NGS) on Whole Blood or Bone Marrow samples. Results in Sample collection deadline: 1st or 16th of every month. Reports available: 15th or 30th of the same month respectively. Approximate turnaround time is 15–30 days from sample receipt at the laboratory.. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)UnisexPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The primary purpose of the Oncomine JMML Panel Test is to detect pathogenic or likely pathogenic mutations in 13 genes known to be associated with Juvenile Myelomonocytic Leukemia. This molecular information serves multiple clinical purposes: it aids in confirming the diagnosis of JMML when clinical and hematological findings are suggestive; it helps differentiate JMML from other myeloproliferative or myelodysplastic disorders in children; it provides prognostic information that can guide treatment intensity and the decision regarding hematopoietic stem cell transplantation; and it may identify targetable mutations for potential future therapeutic interventions.

Test Code
1372
Price
₹40,950
Sample Type
Whole Blood or Bone Marrow
Result Time
Sample collection deadline: 1st or 16th of every month. Reports available: 15th or 30th of the same month respectively. Approximate turnaround time is 15–30 days from sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Ensure the NGS Test Requisition Form (Form 40) is duly completed with all relevant clinical information. No fasting is required for blood sample collection. Inform the healthcare provider about any recent blood transfusions, ongoing treatments, or medications. For bone marrow aspiration, the child may require procedural sedation as determined by the treating physician.

Method: Venipuncture (blood) or Bone Marrow Aspiration

Step 2

Laboratory Analysis

For blood samples: A trained phlebotomist will collect approximately 3 mL of venous blood into a lavender-top (EDTA) tube via standard venipuncture. For bone marrow samples: The aspirate will be collected by a specialist using a bone marrow biopsy needle, typically from the posterior iliac crest, under local anesthesia or sedation. The sample must be immediately labeled with patient details.

Step 3

Report Delivery

The blood or bone marrow sample will be processed and shipped under refrigerated conditions (2–8°C). Do not freeze the sample. The sample container must remain sealed and properly labeled during transport. Results will be delivered within the designated reporting cycle (15th or 30th of the same month) through the online portal, email, or WhatsApp.

Timeline: Sample collection deadline: 1st or 16th of every month. Reports available: 15th or 30th of the same month respectively. Approximate turnaround time is 15–30 days from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:No special preparation such as fasting is required. Ensure the NGS Test Requisition Form (Form 40) is completely filled out with clinical details, provisional diagnosis, and treating physician information. Inform the collection center about any recent blood transfusions. Bring a valid doctor's prescription or referral. For children, ensure the child is comfortable and explain the procedure in age-appropriate terms to minimize anxiety.
2
During the Test:The test itself is a laboratory analysis performed on the submitted sample. Sample collection involves a standard venipuncture (blood draw) collecting 3 mL into an EDTA tube, or a bone marrow aspiration procedure if bone marrow is submitted. The bone marrow procedure involves inserting a needle into the posterior iliac crest under local anesthesia or sedation. The entire sample collection process takes approximately 10–15 minutes for blood draw and 30–45 minutes for bone marrow aspiration.
3
After the Test:After sample collection, a small adhesive bandage will be placed over the puncture site. For blood draws, mild bruising may occur and resolves within a few days. For bone marrow aspiration, the child may experience localized discomfort at the aspiration site for 1–2 days; pain relief as recommended by the physician may be used. The sample will be processed and analyzed using NGS technology. Results will be available within the designated reporting cycle and can be accessed through the online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The primary purpose of the Oncomine JMML Panel Test is to detect pathogenic or likely pathogenic mutations in 13 genes known to be associated with Juvenile Myelomonocytic Leukemia. This molecular information serves multiple clinical purposes: it aids in confirming the diagnosis of JMML when clinical and hematological findings are suggestive; it helps differentiate JMML from other myeloproliferative or myelodysplastic disorders in children; it provides prognostic information that can guide treatment intensity and the decision regarding hematopoietic stem cell transplantation; and it may identify targetable mutations for potential future therapeutic interventions.

How to Prepare

  • Fasting is NOT required prior to sample collection
  • Collect 3 mL (minimum 2 mL) whole blood in a Lavender top (EDTA) tube OR submit bone marrow aspirate
  • Ship the sample refrigerated (2–8°C). DO NOT FREEZE
  • Duly filled NGS Test Requisition Form (Form 40) is mandatory with the sample
  • Clearly label the sample tube with patient name, date of birth, and unique ID
  • Inform the lab of any recent blood transfusions or chemotherapy
  • Ensure sample reaches the laboratory within 72 hours of collection

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"The Oncomine JMML Panel is an indispensable tool in the diagnostic workup of suspected Juvenile Myelomonocytic Leukemia. Mutations in the RAS-pathway genes—NRAS, KRAS, PTPN11, CBL, and NF1—are identified in approximately 85–90% of JMML cases. This NGS-based panel provides actionable molecular data that supports definitive diagnosis, risk stratification, and therapeutic decision-making. I recommend this test for any child presenting with persistent monocytosis, splenomegaly, unexplained cytopenias, or clinical features suggestive of a myeloproliferative disorder. Early molecular confirmation is critical for timely initiation of appropriate treatment, including consideration for hematopoietic stem cell transplantation when indicated."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood or Bone Marrow
Sample Volume3 mL (2 mL minimum)
ContainerLavender top (EDTA) tube
Collection MethodVenipuncture (blood) or Bone Marrow Aspiration

Sample Stability

Room Temperature (15–25°C): Up to 6 hours
Refrigerated (2–8°C): Up to 72 hours
Frozen: Not Acceptable (sample must not be frozen)
Sample Rejection Criteria:
  • Frozen sample
  • Clotted sample
  • Severely hemolyzed sample
  • Sample volume less than 2 mL
  • Missing or incomplete NGS Test Requisition Form (Form 40)
  • Unlabeled or mislabeled sample tube
  • Sample received beyond 72 hours of collection at room temperature

Understanding Your Results

The Oncomine JMML Panel Test results indicate whether pathogenic or likely pathogenic mutations have been identified in any of the 13 genes analyzed. Interpretation of results should always be performed by a qualified clinical geneticist or hematologist in the context of clinical findings, hematological parameters, bone marrow morphology, and family history. The presence of a mutation does not by itself confirm a diagnosis of JMML; it must be correlated with the clinical picture.
📊

Mutation Detected in RAS-pathway gene (NRAS, KRAS, PTPN11, CBL, or NF1)

Strongly suggestive of JMML when combined with compatible clinical and hematological findings. RAS-pathway mutations are found in approximately 85–90% of JMML cases. Specific mutation type and variant allele frequency may carry prognostic significance.

📊

Mutation Detected in epigenetic/splicing gene (ASXL1, SETBP1, EZH2, DNMT3A, ZRSR2)

May indicate JMML with adverse prognostic features or a related myeloid neoplasm. Mutations in ASXL1 and SETBP1 in particular are associated with poorer outcomes and may influence treatment decisions, including early consideration for hematopoietic stem cell transplantation.

📊

Mutation Detected in transcription factor gene (GATA2, RUNX1)

Findings should be interpreted alongside RAS-pathway mutation status and clinical features. Mutations in these genes may suggest a predisposition syndrome or contribute to JMML pathogenesis.

📊

No Pathogenic Mutation Detected (Not Detected for all 13 genes)

JMML is less likely but cannot be completely excluded. Approximately 10–15% of JMML cases do not have identifiable mutations in known RAS-pathway genes. Clinical correlation with bone marrow biopsy, flow cytometry, and additional genetic testing may be warranted. Genetic counseling is recommended.

📊

Variant of Uncertain Significance (VUS) Identified

A genetic variant was detected whose clinical significance is not yet established. VUS findings should not be used alone for diagnostic or treatment decisions. Clinical correlation and potential future reclassification based on emerging evidence are recommended. Genetic counseling is strongly advised.

⚠️ When to Consult a Doctor:

Consult a pediatric hematologist-oncologist promptly if your child presents with persistent or unexplained symptoms such as fever, fatigue, pallor, easy bruising or bleeding, enlarged spleen or liver, joint pain or swelling, or frequent infections. Early consultation is particularly important for children under 4 years of age with unexplained monocytosis or blood count abnormalities. A clinical geneticist should be consulted for interpretation of test results and to discuss implications for the family, including the possibility of inherited predisposition syndromes.

Limitations

  • ⚠This test targets only the 13 genes included in the panel; mutations in other genes associated with JMML will not be detected
  • ⚠Copy number variations (CNVs) and large structural rearrangements may not be reliably detected by NGS alone
  • ⚠Novel or rare variants of uncertain significance (VUS) may be identified, requiring clinical correlation
  • ⚠A negative result does not completely exclude JMML; clinical and morphological evaluation remain essential
  • ⚠Sensitivity may be reduced in samples with low tumor cell content or high background DNA
  • ⚠This test does not replace bone marrow biopsy, flow cytometry, or karyotyping in the overall diagnostic workup

Risks & Considerations

  • ●Blood draw: Minimal risk; may include slight pain, bruising, or swelling at the puncture site
  • ●Bone marrow aspiration: Mild procedural pain, localized bleeding, and rarely, infection at the aspiration site
  • ●Genetic testing: Identification of variants of uncertain significance (VUS) may cause parental anxiety; genetic counseling is recommended
  • ●Incidental findings: Rarely, mutations in predisposition genes (e.g., NF1, GATA2) may be identified with implications for family members

Interfering Factors

  • ●Hemolyzed or clotted blood samples may compromise DNA quality and affect results
  • ●Recent blood transfusion (within 4 weeks) may dilute patient-derived DNA and mask mutations
  • ●Sample stored beyond recommended stability period (Room Temperature >6 hours or Refrigerated >72 hours)
  • ●Use of incorrect anticoagulant or collection tube
  • ●Insufficient sample volume (less than 2 mL)

Compare With Similar Tests

TestOncomine Juvenile Myelomonocytic Leukaemia (JMML) Panel Test
ComparisonOncomine Juvenile Myelomonocytic Leukaemia (JMML) Panel Test

Frequently Asked Questions

What is the Oncomine JMML Panel Test?
The Oncomine JMML Panel Test is a next-generation sequencing (NGS)-based genetic test that analyzes 13 genes associated with Juvenile Myelomonocytic Leukemia (JMML). It helps identify pathogenic mutations that confirm the diagnosis of JMML, support prognostication, and guide treatment decisions in affected children.
What genes are included in this panel?
The panel analyzes 13 genes: ASXL1, CBL, DNMT3A, EZH2, GATA2, KRAS, NF1, NRAS, PTPN11, RUNX1, SETBP1, SH2B3, and ZRSR2. These include key RAS-pathway genes (mutated in ~85–90% of JMML cases) and additional prognostically significant genes.
Who should undergo the Oncomine JMML Panel Test?
This test is recommended for children (typically under 4 years of age) who present with clinical features suggestive of JMML, such as persistent monocytosis, splenomegaly, hepatomegaly, unexplained cytopenias, or peripheral blood findings indicative of a myeloproliferative/myelodysplastic disorder. It is ordered by a hematologist or oncologist.
What sample is required for this test?
The test requires 3 mL (minimum 2 mL) of whole blood collected in a lavender-top (EDTA) tube, or a bone marrow aspirate sample. The sample must be shipped refrigerated and should never be frozen.
How long does it take to receive the results?
Results are available within approximately 15–30 days. Samples collected by the 1st of the month have reports by the 15th, and samples collected by the 16th have reports by the 30th of the same month. Results are delivered via online portal, email, or WhatsApp.
What does a positive (mutation detected) result mean?
A positive result indicates that a pathogenic or likely pathogenic mutation has been found in one or more of the 13 genes analyzed. When correlated with clinical and hematological findings, this supports a diagnosis of JMML. The specific gene mutated may provide prognostic information. Results should be interpreted by a qualified hematologist or clinical geneticist.
Is fasting required before the test?
No, fasting is not required for the Oncomine JMML Panel Test. The test analyzes genetic material (DNA) from blood or bone marrow cells, and food intake does not affect the results.
What is the cost of the Oncomine JMML Panel Test in India?
The cost of the Oncomine JMML Panel Test at DNA Labs India is INR 40,950. This price includes genetic analysis, report generation, and free home sample collection in select cities across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the Oncomine JMML Panel Test in numerous cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, and many more. You can book online to schedule a convenient home collection.
How is this test different from a bone marrow biopsy?
A bone marrow biopsy examines the morphology and cellularity of the bone marrow and is essential for a comprehensive JMML diagnosis. The Oncomine JMML Panel Test, on the other hand, is a molecular (genetic) test that detects specific gene mutations using NGS technology. Both tests complement each other; the genetic panel provides molecular confirmation and prognostic information that a biopsy alone cannot offer.
Can this test be used to monitor treatment response?
The Oncomine JMML Panel Test is primarily a diagnostic and prognostic tool rather than a routine monitoring test. However, it can be used at baseline to identify actionable mutations, and repeat testing may be considered in specific clinical scenarios to assess for the emergence of new mutations or changes in variant allele frequency during treatment. Discuss with your treating hematologist for individualized guidance.
Is genetic counseling recommended before and after this test?
Yes, genetic counseling is strongly recommended both before and after the Oncomine JMML Panel Test. Pre-test counseling helps families understand the purpose, scope, and potential implications of genetic testing. Post-test counseling is important for discussing results, including any variants of uncertain significance (VUS), and for evaluating the possibility of inherited cancer predisposition syndromes that may affect other family members.
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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