CBL Gene Juvenile myelomonocytic leukemia, due to CBL germline mutation NGS Genetic Test
Short Name: CBL Gene JMML NGS Test
Also known as: CBL Gene Mutation Test, JMML Genetic Test, CBL Germline Mutation Analysis
CBL Gene Juvenile myelomonocytic leukemia, due to CBL germline mutation NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the CBL Gene JMML NGS Genetic Test is to detect germline mutations in the CBL gene that are associated with an increased risk of developing Juvenile Myelomonocytic Leukemia (JMML). This test aids in confirming a clinical diagnosis, identifying at-risk individuals in families with a history of JMML, and guiding personalized treatment and management strategies. It is particularly valuable for pediatric patients presenting with symptoms of JMML or unexplained hematological abnormalities.
- Test Code
- 2881
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Ensure the patient's clinical history and family pedigree are documented during genetic counseling.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist using standard venipuncture techniques. For FTA card collection, a drop of blood is applied to the card.
Report Delivery
Apply pressure to the puncture site to stop bleeding. The sample will be processed and sent to the laboratory for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CBL Gene JMML NGS Genetic Test is to detect germline mutations in the CBL gene that are associated with an increased risk of developing Juvenile Myelomonocytic Leukemia (JMML). This test aids in confirming a clinical diagnosis, identifying at-risk individuals in families with a history of JMML, and guiding personalized treatment and management strategies. It is particularly valuable for pediatric patients presenting with symptoms of JMML or unexplained hematological abnormalities.
How to Prepare
- Ensure proper labeling of the sample with patient details
- Transport the blood sample at ambient room temperature
- For FTA card, allow the blood to dry completely before packaging
- Follow all provided instructions for sample handling
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for CBL mutations is crucial for early diagnosis and management of JMML in children, aiding in personalized treatment plans."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled or contaminated sample
- Sample received after stability period
Understanding Your Results
Positive (Mutation Detected)
A pathogenic variant in the CBL gene was identified, indicating an increased risk for Juvenile Myelomonocytic Leukemia. Further clinical evaluation and genetic counseling are recommended.
Negative (No Mutation Detected)
No pathogenic variants in the CBL gene were detected. However, this does not completely rule out JMML, as other genetic factors may be involved. Clinical correlation is advised.
Consult a doctor if the test result is positive, if symptoms of JMML persist or worsen, or for guidance on management and family screening. Genetic counseling is recommended for all cases.
Limitations
- ⚠This test may not detect all possible mutations in the CBL gene
- ⚠Results should be interpreted in conjunction with clinical findings and family history
- ⚠Genetic counseling is essential for understanding implications
- ⚠The test does not diagnose JMML alone; clinical correlation is required
Risks & Considerations
- ●Minimal risk associated with blood draw, such as slight pain or bruising
- ●Psychological impact of genetic results; counseling is provided
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage
- ●Hemolyzed blood sample
- ●Recent blood transfusion may affect results
Compare With Similar Tests
| Test | CBL Gene Juvenile myelomonocytic leukemia, due to CBL germline mutation NGS Genetic Test | PTPN11 Gene Mutation Test | NF1 Gene Mutation Test |
|---|---|---|---|
| Comparison | CBL Gene Juvenile myelomonocytic leukemia, due to CBL germline mutation NGS Genetic Test | Detects mutations in the PTPN11 gene, another common cause of JMML. May be used alongside CBL testing for comprehensive diagnosis. | Identifies mutations in the NF1 gene associated with JMML in neurofibromatosis type 1 patients. |
Frequently Asked Questions
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