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TRNT1 Gene Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay NGS Genetic Test

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TRNT1 Gene Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay NGS Genetic Test

TRNT1 Gene Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose mutations in the TRNT1 gene associated with sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay, enabling accurate diagnosis and management.

Test Code
5622
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS
Step 1

Sample Collection

Clinical history review and genetic counseling recommended before sample collection.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS in our laboratory.

Step 3

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

1
Before the Test:Clinical history review and genetic counseling recommended.
2
During the Test:Sample collection via blood draw or DNA extraction.
3
After the Test:Results available in 3 to 4 weeks; genetic counseling advised for interpretation.

About This Test

Who Should Get This Test

To diagnose mutations in the TRNT1 gene associated with sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay, enabling accurate diagnosis and management.

How to Prepare

  • Blood sample: Standard venipuncture procedure
  • DNA extraction: From blood or FTA card
  • Ensure proper labeling and transport

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early diagnosis through genetic testing can guide management and family counseling for rare genetic disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the TRNT1 gene.
Positive result: Pathogenic variant detected, confirming diagnosis
Negative result: No pathogenic variants, but clinical correlation needed
Variant of uncertain significance: Requires further evaluation
⚠️ When to Consult a Doctor:

If symptoms such as anemia, recurrent infections, periodic fevers, or developmental delays are present, or for family planning with a history of genetic disorders.

Frequently Asked Questions

What is the TRNT1 Gene NGS Genetic Test?
It is a genetic test using Next-Generation Sequencing to detect mutations in the TRNT1 gene, which causes a rare disorder with anemia, immunodeficiency, fevers, and developmental delays.
Who should undergo this test?
Individuals with symptoms like unexplained anemia, recurrent infections, periodic fevers, developmental delays, or a family history of TRNT1-related disorders.
What are the symptoms of TRNT1 gene disorder?
Symptoms include weakness, fatigue, pale skin, shortness of breath, frequent infections, fever, joint pain, rash, and delayed motor, language, or social skills.
How is the test performed?
A blood sample or extracted DNA is analyzed using NGS technology to sequence the TRNT1 gene and identify mutations.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate the presence or absence of pathogenic variants in the TRNT1 gene, helping confirm diagnosis and guide treatment.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after testing to understand implications and family planning.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings if there is a known family history, but consultation with a genetic specialist is advised.
What are the risks of the test?
The test involves minimal physical risks from blood draw; psychological risks may include anxiety about results, mitigated by counseling.
How accurate is the NGS technology?
NGS is highly accurate for detecting genetic variants, but accuracy depends on sample quality and bioinformatics analysis.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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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.

LIMS Integration

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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