TERT Gene Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1 NGS Genetic Test
Short Name: TERT Gene NGS Test
Also known as: TERT gene mutation test, Telomere-related pulmonary fibrosis test, Bone marrow failure genetic test
TERT Gene Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 diagnose telomere-related type 1 diseases by detecting mutations in the TERT gene, which can cause pulmonary fibrosis and bone marrow failure. It helps in confirming the diagnosis, assessing risk for family members, and guiding management strategies.
- Test Code
- 5127
- 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
- NGS Technology
Sample Collection
Inform the patient about the test procedure and obtain consent. Ensure no recent blood transfusions or stem cell transplants.
Method: Venipuncture
Laboratory Analysis
Collect blood sample using standard venipuncture technique. Use EDTA tube for blood collection.
Report Delivery
Label the sample correctly and transport to the lab at ambient temperature.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose telomere-related type 1 diseases by detecting mutations in the TERT gene, which can cause pulmonary fibrosis and bone marrow failure. It helps in confirming the diagnosis, assessing risk for family members, and guiding management strategies.
How to Prepare
- Avoid strenuous activity before sample collection
- Bring identification and doctor's prescription
- No fasting required unless specified by physician
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for TERT gene mutations is crucial for early diagnosis and management of telomere-related disorders, especially in families with a history of pulmonary fibrosis or bone marrow failure."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect sample type
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of TERT-related disorder. Genetic counseling recommended.
Negative for pathogenic variant
No mutations detected in TERT gene. Consider other genetic or non-genetic causes.
Variant of uncertain significance
Further testing and family studies may be needed.
Consult a geneticist or specialist if symptoms persist or if there is a family history of pulmonary fibrosis or bone marrow failure.
Limitations
- ⚠May not detect all types of mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results may have variants of uncertain significance
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Presence of inhibitors in blood sample
Compare With Similar Tests
| Test | TERT Gene Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1 NGS Genetic Test | Telomere Length Test | Whole Exome Sequencing |
|---|---|---|---|
| Comparison | TERT Gene Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1 NGS Genetic Test | Measures telomere length but does not identify specific gene mutations. | Broader genetic analysis but more expensive and time-consuming. |
Frequently Asked Questions
What is the TERT Gene Pulmonary Fibrosis and Bone Marrow Failure NGS Genetic Test?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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