RTEL1 Gene Dyskeratosis congenita, autosomal recessive type 5 NGS Genetic Test
RTEL1 Gene Dyskeratosis congenita, autosomal recessive type 5 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type 5 by detecting mutations in the RTEL1 gene using NGS technology, and to identify carriers for family planning and genetic counseling.
- Test Code
- 4897
- 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
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with RTEL1 Gene Dyskeratosis Congenita.
Method: Venipuncture
Laboratory Analysis
Standard blood draw procedure using venipuncture or collection of extracted DNA or one drop blood on FTA card.
Report Delivery
Sample is processed for DNA extraction and analyzed using Next-Generation Sequencing (NGS) technology.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type 5 by detecting mutations in the RTEL1 gene using NGS technology, and to identify carriers for family planning and genetic counseling.
How to Prepare
- Collect blood sample in EDTA tube or use extracted DNA
- For FTA card, apply one drop of blood and air dry
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"As a physician specializing in obstetrics and gynecology, I recommend this test for families with a history of dyskeratosis congenita to assess carrier status and guide reproductive decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of RTEL1-related Dyskeratosis Congenita; genetic counseling recommended
Negative for pathogenic variant
No mutation detected; clinical correlation advised if symptoms persist
Variant of uncertain significance
Further testing or family studies may be needed
Consult a doctor if you or a family member exhibit symptoms such as abnormal skin pigmentation, nail abnormalities, or have a family history of dyskeratosis congenita.
Limitations
- ⚠May not detect all types of mutations in the RTEL1 gene
- ⚠Results should be interpreted in conjunction with clinical findings
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
Frequently Asked Questions
What is RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type 5?
What are the common symptoms of this condition?
How is RTEL1 Gene Dyskeratosis Congenita diagnosed?
What is the cost of the RTEL1 Gene NGS Genetic Test at DNA Labs India?
What sample types are accepted for this test?
Is fasting required before the test?
How long does it take to get the test results?
Can this test identify carriers of the disorder?
Is genetic counseling recommended before testing?
What should I do if the test results are positive?
Are there any risks associated with the test?
Is the test covered by insurance or government schemes?
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₹20,000Reference Laboratory Services
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