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Nx Gen Sequencing: Aicardi-Goutieres Syndrome Test

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Nx Gen Sequencing: Aicardi-Goutieres Syndrome Test

Short Name: AGS Genetic Test

Nx Gen Sequencing: Aicardi-Goutieres Syndrome Test test available at DNA Labs India for ₹23,400. Uses NGS, Sanger Sequencing on Whole Blood samples. Results in Report delivered in 40 Working Days. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)Infants 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 identify mutations in genes associated with Aicardi-Goutieres Syndrome for accurate diagnosis and management.

Test Code
1319
Price
₹23,400
Sample Type
Whole Blood
Result Time
Report delivered in 40 Working Days
Fasting Required
No
Method
NGS, Sanger Sequencing
Step 1

Sample Collection

Complete and sign the Whole Exome Sequencing Consent Form (Form 37). Ensure proper identification and documentation.

Method: Blood draw

Step 2

Laboratory Analysis

A healthcare professional will collect a blood sample using a sterile needle and syringe. The process is quick and minimally invasive.

Step 3

Report Delivery

Ship the sample refrigerated. Do not freeze. Ensure the sample is labeled correctly and sent to the laboratory promptly.

Timeline: Report delivered in 40 Working Days

Patient Instructions

1
Before the Test:Ensure consent form is completed and sample is collected properly as per instructions.
2
During the Test:The laboratory will analyze the DNA using NGS and Sanger sequencing to identify mutations.
3
After the Test:Report will be generated and delivered via online portal, email, or WhatsApp within the turnaround time.

About This Test

Who Should Get This Test

To identify mutations in genes associated with Aicardi-Goutieres Syndrome for accurate diagnosis and management.

How to Prepare

  • Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes.
  • Ship refrigerated. DO NOT FREEZE.
  • Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Doctor's Notes

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

"This genetic test is essential for confirming Aicardi-Goutieres Syndrome diagnosis, enabling early intervention and personalized management plans for affected children."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume10 mL (5 mL min.)
ContainerLavender Top (EDTA) tubes
Collection MethodBlood draw

Sample Stability

Room Temperature6 hours
Refrigerator72 hours
FrozenNot applicable
Sample Rejection Criteria:
  • Sample not refrigerated
  • Insufficient volume
  • Missing consent form
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the AGS-associated genes. A positive result confirms AGS, while a negative result may require further clinical evaluation.
Positive result: Pathogenic variant detected, indicating Aicardi-Goutieres Syndrome.
Negative result: No pathogenic variants detected; clinical correlation is recommended.
Variant of uncertain significance: Further testing or genetic counseling may be needed.
Consult a geneticist for comprehensive interpretation and family planning advice.
⚠️ When to Consult a Doctor:

If symptoms of AGS are present, if the test result is positive or uncertain, or for genetic counseling and management planning.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results depend on sample quality
  • ⚠Not suitable for prenatal diagnosis

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Contaminated or degraded sample
  • ●Improper sample storage
  • ●Insufficient sample volume

Frequently Asked Questions

What is Aicardi-Goutieres Syndrome?
Aicardi-Goutieres Syndrome (AGS) is a rare genetic disorder that affects the brain and immune system, causing inflammation and neurological symptoms such as seizures and developmental delay.
What causes Aicardi-Goutieres Syndrome?
AGS is caused by mutations in genes like TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1, which lead to abnormal immune responses and brain inflammation.
What are the common symptoms of AGS?
Symptoms include seizures, developmental delay, intellectual disability, microcephaly, spasticity, retinal degeneration, and hepatitis, typically appearing in infancy.
How is Aicardi-Goutieres Syndrome diagnosed?
Diagnosis involves clinical evaluation, brain imaging (like MRI), and genetic testing such as Nx Gen Sequencing to identify mutations in associated genes.
What is Nx Gen Sequencing?
Nx Gen Sequencing is an advanced genetic test that uses next-generation sequencing technology to analyze DNA and detect mutations in genes associated with AGS with high accuracy.
How does the Nx Gen Sequencing test work?
The test analyzes a blood sample to sequence specific genes. It identifies variants or mutations that may cause AGS, providing a definitive genetic diagnosis.
What is the cost of the Nx Gen Sequencing test for AGS?
The test costs INR 23400.0 at DNA Labs India, which includes home sample collection services across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
The turnaround time for report delivery is 40 working days, with reports available via online portal, email, or WhatsApp.
Is the test covered by insurance?
Some insurance plans may cover genetic testing. It is advisable to check with your insurance provider for specific coverage details.
Who should consider getting this test?
Infants or children showing symptoms of AGS, or individuals with a family history of the syndrome, should consider this test for early diagnosis and management.
What should I do if the test result is positive?
If the test is positive, consult a geneticist or pediatric neurologist for comprehensive management, genetic counseling, and to discuss treatment 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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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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