PTPN11 Gene Leukemia, juvenile myelomonocytic NGS Genetic Test
Short Name: PTPN11 JMML NGS Test
Also known as: PTPN11 Mutation Test, JMML Genetic Test, PTPN11 Gene Sequencing
PTPN11 Gene Leukemia, juvenile myelomonocytic 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 this test is to identify pathogenic mutations in the PTPN11 gene that cause juvenile myelomonocytic leukemia (JMML). It helps in confirming diagnosis, guiding treatment decisions, assessing family risk, and enabling genetic counseling for affected families.
- Test Code
- 2885
- 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 specific preparation is required. Ensure genetic counseling is scheduled to discuss test implications and family history.
Method: Venipuncture or FTA Card
Laboratory Analysis
A blood sample will be drawn from a vein in the arm or a drop of blood will be collected on an FTA card. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities. Store the sample as instructed if self-collected.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the PTPN11 gene that cause juvenile myelomonocytic leukemia (JMML). It helps in confirming diagnosis, guiding treatment decisions, assessing family risk, and enabling genetic counseling for affected families.
How to Prepare
- Use sterile equipment for blood collection
- Label the sample correctly with patient details
- Transport the sample at ambient room temperature
- For FTA cards, ensure the blood drop is fully absorbed and dried
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test is vital for early detection and personalized treatment of JMML, improving outcomes in pediatric patients."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
- Samples contaminated or improperly stored
Understanding Your Results
Positive for PTPN11 mutation
Confirms genetic basis for JMML; recommend further clinical evaluation and targeted therapy.
Action: Consult an oncologist for treatment planning and genetic counseling for family risk assessment.
Negative for PTPN11 mutation
No pathogenic variant detected in the PTPN11 gene; JMML may still be possible due to other genetic or non-genetic factors.
Action: Consider additional genetic tests or clinical follow-up based on symptoms.
Consult a doctor immediately if the test is positive or if symptoms persist despite a negative result. Genetic counseling is recommended for all families to understand inheritance patterns and risks.
Limitations
- ⚠May not detect all genetic variants or mutations in other genes linked to JMML
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not replace comprehensive clinical evaluation
- ⚠False negatives or positives are possible, though rare with NGS technology
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site
- ●Emotional impact of genetic results; counseling is advised
Interfering Factors
- ●Sample contamination during collection or transport
- ●Improper storage conditions affecting DNA integrity
- ●Hemolyzed or insufficient blood samples
- ●Recent blood transfusions may alter genetic material
Compare With Similar Tests
| Test | PTPN11 Gene Leukemia, juvenile myelomonocytic NGS Genetic Test | RUNX1 Gene Mutation Test | CBL Gene Mutation Test | KRAS Gene Mutation Test | Comprehensive JMML Panel |
|---|---|---|---|---|---|
| Comparison | PTPN11 Gene Leukemia, juvenile myelomonocytic NGS Genetic Test | Focuses on RUNX1 gene mutations associated with familial platelet disorder and AML; different genetic target than PTPN11. | Detects mutations in the CBL gene, also linked to JMML; may be used alongside PTPN11 testing for comprehensive analysis. | Identifies KRAS mutations in JMML; PTPN11 testing is specific to SHP-2 protein dysfunction. | Includes multiple genes (PTPN11, KRAS, NRAS, CBL) for broader genetic screening in JMML cases. |
Frequently Asked Questions
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