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TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic Test

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TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic Test

Short Name: AGS Type 1 Genetic Test

Also known as: Aicardi-Goutieres Syndrome Type 1, AGS Type 1, TREX1-related AGS

TREX1 Gene Aicardi-Goutieres Syndrome Type 1 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.

Next-Generation Sequencing (NGS) Genetic TestInfants and Children🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Aicardi-Goutieres Syndrome Type 1 by detecting pathogenic mutations in the TREX1 gene.

Test Code
1501
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)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling. A pedigree chart may be drawn to understand family history.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or an alternative sample type as specified.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample appropriately if not collected at home.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to understand the implications of testing.
2
During the Test:The sample is analyzed using NGS technology to screen for mutations in the TREX1 gene.
3
After the Test:Results are interpreted by a geneticist and a report is generated.

About This Test

Who Should Get This Test

To diagnose Aicardi-Goutieres Syndrome Type 1 by detecting pathogenic mutations in the TREX1 gene.

How to Prepare

  • Fast for not required
  • Bring previous medical records
  • Inform about any medications

Doctor's Notes

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

"Early genetic testing for TREX1 mutations is essential for diagnosing AGS Type 1 and guiding treatment decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood samples are stable at room temperature for up to 24 hours
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled specimens

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TREX1 gene.
A positive result confirms the diagnosis of AGS Type 1.
A negative result suggests that TREX1 mutations are not detected, but clinical evaluation may still be necessary.
⚠️ When to Consult a Doctor:

If symptoms of Aicardi-Goutieres Syndrome are present, such as seizures, developmental delay, or skin lesions, consult a neurologist or geneticist immediately.

Limitations

  • ⚠Test may not detect all mutations
  • ⚠Results require clinical correlation
  • ⚠Not a screening test for all AGS genes

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Potential for genetic discrimination or psychological impact

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Technical errors in sequencing

Compare With Similar Tests

TestTREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic TestRNASEH2B Gene AGS Type 2 Test
ComparisonTREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic Test

Frequently Asked Questions

What is the TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic Test?
It is a diagnostic test that uses Next-Generation Sequencing to detect mutations in the TREX1 gene, which causes Aicardi-Goutieres Syndrome Type 1, a rare neurological disorder.
What are the symptoms of Aicardi-Goutieres Syndrome Type 1?
Symptoms include encephalopathy, microcephaly, seizures, muscle stiffness, developmental delay, skin rash, and enlarged spleen or liver, often appearing in infancy.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed in a laboratory using NGS technology to identify genetic variants in the TREX1 gene.
What is the cost of the test?
The cost is INR 20,000, which includes sample collection and report delivery, with free home collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates the presence of pathogenic TREX1 gene mutations, confirming a diagnosis of Aicardi-Goutieres Syndrome Type 1.
Can the test detect all mutations in the TREX1 gene?
While highly accurate, the test may not detect all possible mutations, and results should be correlated with clinical findings.
Is genetic counseling recommended before testing?
Yes, genetic counseling is advised to understand the test implications, interpret results, and discuss family planning.
What are the risks of the test?
Risks are minimal, primarily related to blood draw, such as slight pain or infection, and potential psychological impact of results.
How accurate is the NGS Genetic Test?
The NGS Genetic Test is highly accurate for detecting mutations in the TREX1 gene, but accuracy depends on sample quality and laboratory standards.
What should I do if my child shows symptoms of AGS Type 1?
Consult a pediatric neurologist or geneticist promptly for evaluation and to discuss genetic testing options.
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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