TERT Gene Dyskeratosis congenita, autosomal recessive type 4/ autosomal dominant type 2 NGS Genetic Test
Also known as: Telomerase Reverse Transcriptase Gene Test, DC Type 4/Type 2 Genetic Test
TERT Gene Dyskeratosis congenita, autosomal recessive type 4/ autosomal dominant type 2 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose dyskeratosis congenita by identifying pathogenic mutations in the TERT gene using next-generation sequencing, aiding in clinical management and genetic counseling.
- Test Code
- 4894
- 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
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with dyskeratosis congenita.
Laboratory Analysis
Your sample is analyzed using NGS Technology in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose dyskeratosis congenita by identifying pathogenic mutations in the TERT gene using next-generation sequencing, aiding in clinical management and genetic counseling.
How to Prepare
- Blood sample collection in EDTA tube
- Alternatively, use extracted DNA or one drop blood on FTA card
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of dyskeratosis congenita; genetic counseling and management recommended.
No pathogenic variant detected
Dyskeratosis congenita due to TERT mutations unlikely; consider other genetic or clinical causes.
If symptoms of dyskeratosis congenita are present, such as skin changes, nail abnormalities, or bone marrow failure, or if there is a family history of the condition.
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
Frequently Asked Questions
What is dyskeratosis congenita?
What causes dyskeratosis congenita?
How is dyskeratosis congenita inherited?
What are the common symptoms?
How is dyskeratosis congenita diagnosed?
What is the TERT gene?
What does the NGS genetic test involve?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What should I do before the test?
What do the results mean?
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Reference 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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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