PAX5 Gene Leukemia, acute lymphoblastic, susceptibility to, due to PAX5 germline mutation NGS Genetic Test
Short Name: PAX5 Germline NGS
Also known as: PAX5 Gene Mutation Test, PAX5 Leukemia Susceptibility NGS, PAX5 Germline Mutation Analysis
PAX5 Gene Leukemia, acute lymphoblastic, susceptibility to, due to PAX5 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 Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.. 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 NGS genetic test is to detect germline mutations in the PAX5 gene that increase susceptibility to acute lymphoblastic leukemia (ALL). It is used for individuals with a family history of ALL, those with clinical suspicion of hereditary leukemia, and for risk assessment in asymptomatic individuals. The test aids in confirming diagnosis, guiding surveillance, and enabling informed reproductive decisions.
- Test Code
- 5996
- CPT Code
- 81479
- ICD Code
- Z15.09
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss implications and obtain informed consent.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a drop of blood from a finger prick will be placed on the card.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect germline mutations in the PAX5 gene that increase susceptibility to acute lymphoblastic leukemia (ALL). It is used for individuals with a family history of ALL, those with clinical suspicion of hereditary leukemia, and for risk assessment in asymptomatic individuals. The test aids in confirming diagnosis, guiding surveillance, and enabling informed reproductive decisions.
How to Prepare
- Ensure the sample is collected in an EDTA vacutainer or on an FTA card as provided.
- For FTA card, allow the blood spot to air dry completely before sealing in the provided envelope.
- Label the sample with patient name, date of birth, and collection date.
- Transport the sample to the laboratory at ambient temperature (15-30°C).
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early identification of PAX5 germline mutations can guide surveillance and family counseling, potentially improving outcomes in ALL."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic variant detected
Indicates increased susceptibility to ALL. Recommend clinical surveillance and family testing.
Likely pathogenic variant detected
Likely increases susceptibility; further evidence may be needed. Family studies recommended.
Variant of uncertain significance (VUS)
Clinical significance unknown. Additional testing or family segregation analysis may help.
No pathogenic variant detected
No evidence of PAX5 germline mutation. Other genetic causes may be considered.
Consult your oncologist or genetic counselor if you have a family history of ALL, if you have been diagnosed with ALL at a young age, or if you are planning a family and have a known PAX5 mutation. Also, if you experience symptoms such as persistent fever, fatigue, easy bruising, or bone pain, seek medical advice promptly.
Limitations
- ⚠This test detects mutations in the PAX5 gene only; other genes associated with ALL predisposition are not analyzed.
- ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠NGS may not detect large deletions/duplications in all cases; additional methods may be required.
- ⚠This test does not diagnose leukemia itself; it assesses genetic susceptibility.
- ⚠Results should be interpreted in the context of clinical and family history.
Risks & Considerations
- ●No significant physical risks from blood draw; minimal bruising possible.
- ●Psychological impact of learning genetic predisposition.
- ●Potential for incidental findings.
Interfering Factors
- ●Contamination of sample with maternal cells if prenatal
- ●Insufficient DNA quantity or quality
- ●Recent blood transfusion (within 2 weeks) may dilute nucleated cells
- ●Presence of somatic mutations in blood (if testing for germline, confirm with appropriate tissue)
Compare With Similar Tests
| Test | PAX5 Gene Leukemia, acute lymphoblastic, susceptibility to, due to PAX5 germline mutation NGS Genetic Test | PAX5 Gene NGS Test | Hereditary Leukemia Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | PAX5 Gene Leukemia, acute lymphoblastic, susceptibility to, due to PAX5 germline mutation NGS Genetic Test |
Frequently Asked Questions
What is the PAX5 gene and how is it related to leukemia?
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