TERT Gene Leukemia, acute myeloid form, susceptible due to TERT germline mutation NGS Genetic Test
Short Name: TERT Gene AML Genetic Test
Also known as: TERT Mutation Test for AML, TERT Germline Mutation Analysis, AML Genetic Susceptibility Test
TERT Gene Leukemia, acute myeloid form, susceptible due to TERT 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
To detect germline mutations in the TERT gene that confer susceptibility to Acute Myeloid Leukemia (AML), enabling early risk assessment, genetic counseling, and personalized medical management.
- Test Code
- 5597
- 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
Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members. No specific fasting is required, but avoid strenuous activity before blood draw.
Method: Venipuncture or FTA Card collection
Laboratory Analysis
A blood sample will be collected via venipuncture or using an FTA card. The process is quick and minimally invasive, performed by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately. Store the sample as instructed if self-collected.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect germline mutations in the TERT gene that confer susceptibility to Acute Myeloid Leukemia (AML), enabling early risk assessment, genetic counseling, and personalized medical management.
How to Prepare
- Ensure the sample is collected in a sterile EDTA tube or on an FTA card.
- Label the sample correctly with patient details and test information.
- Transport the sample at ambient room temperature to the laboratory within 24 hours.
- For home collection, follow the kit instructions provided by DNA Labs India.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for TERT mutations is crucial for assessing hereditary risk of AML, enabling early intervention and personalized management strategies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume for analysis
- Improperly labeled or contaminated samples
- Samples collected without proper consent or clinical history
Understanding Your Results
Positive for TERT Mutation
The individual carries a germline mutation in the TERT gene, which increases the risk of developing AML. Genetic counseling and regular monitoring are recommended.
Action: Consult a hematologist or genetic specialist for personalized risk management and surveillance plans.
Negative for TERT Mutation
No pathogenic mutation was detected in the TERT gene. However, this does not eliminate all risk for AML, as other genetic or environmental factors may contribute.
Action: Discuss results with a healthcare provider to assess overall risk and determine if further testing is needed.
Variant of Uncertain Significance (VUS)
A genetic variant was identified, but its clinical significance is unknown. Further research or family studies may be required.
Action: Seek genetic counseling for guidance on monitoring and potential implications.
Consult a doctor if you have a family history of AML, experience symptoms like persistent fatigue or unexplained bleeding, or if your test results are positive or show a VUS. Regular follow-ups are advised for high-risk individuals.
Limitations
- ⚠This test only detects germline mutations in the TERT gene and does not identify somatic mutations or other genetic variants.
- ⚠Results may not predict the exact onset or severity of AML, as other genetic and environmental factors play a role.
- ⚠Limited to the TERT gene; does not cover other genes associated with leukemia risk.
- ⚠False negatives or positives are possible, though rare, due to technical limitations of NGS.
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site.
- ●Psychological impact from test results, especially if positive, necessitating genetic counseling.
Interfering Factors
- ●Sample contamination during collection or processing
- ●Degraded DNA due to improper storage or handling
- ●Presence of inhibitors in the sample affecting NGS analysis
- ●Recent blood transfusions may alter DNA composition
Compare With Similar Tests
| Test | TERT Gene Leukemia, acute myeloid form, susceptible due to TERT germline mutation NGS Genetic Test | FLT3 Gene Mutation Test | NPM1 Gene Mutation Test | Comprehensive Leukemia Panel |
|---|---|---|---|---|
| Comparison | TERT Gene Leukemia, acute myeloid form, susceptible due to TERT germline mutation NGS Genetic Test | Focuses on FLT3 mutations common in AML, while TERT test targets hereditary susceptibility via germline mutations. | Detects somatic mutations in NPM1 for AML prognosis, unlike TERT germline mutation for risk assessment. | Covers multiple genes associated with leukemia, whereas TERT test is specific to TERT gene mutations. |
Frequently Asked Questions
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