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IFIH1 Gene Aicardi-Goutieres Syndrome Type 7 NGS Genetic Test

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IFIH1 Gene Aicardi-Goutieres Syndrome Type 7 NGS Genetic Test

Short Name: IFIH1 AGS Type 7 NGS Test

Also known as: Aicardi-Goutieres Syndrome Type 7, IFIH1 Gene Disorder, AGS Type 7

IFIH1 Gene Aicardi-Goutieres Syndrome Type 7 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.

NGS Genetic TestInfants, Children🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to diagnose Aicardi-Goutieres Syndrome Type 7 by detecting mutations in the IFIH1 gene using NGS technology. It also helps identify carriers of the mutation for family planning and genetic counseling.

Test Code
1506
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

Clinical history of the patient is required. A genetic counseling session to draw a pedigree chart of family members affected with IFIH1 Gene Aicardi-Goutieres Syndrome Type 7 is recommended.

Method: Venipuncture or Blood Drop on FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card, ensuring proper labeling and handling.

Step 3

Report Delivery

Sample is transported to the laboratory under ambient room temperature for analysis. Results are reviewed and interpreted by a genetic counselor.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session and clinical history assessment are required before sample collection.
2
During the Test:Blood sample is collected via venipuncture or FTA card in a clinical setting or at home.
3
After the Test:Results are discussed with a genetic counselor, and a clinical report is provided for further management.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Aicardi-Goutieres Syndrome Type 7 by detecting mutations in the IFIH1 gene using NGS technology. It also helps identify carriers of the mutation for family planning and genetic counseling.

How to Prepare

  • Provide complete clinical history
  • Undergo genetic counseling for pedigree analysis
  • Ensure sample is collected in appropriate container
  • Label sample correctly with patient details

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test is crucial for early diagnosis and management of AGS Type 7, enabling timely intervention and family planning. Genetic counseling is recommended before and after testing."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or Blood Drop on FTA Card

Sample Stability

Stable at room temperature for up to 7 days
FTA cards can be stored at room temperature
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results from this test indicate the presence or absence of mutations in the IFIH1 gene associated with Aicardi-Goutieres Syndrome Type 7. Positive results confirm diagnosis, while negative results may require further clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of AGS Type 7. Genetic counseling and management planning advised.

📊

Likely pathogenic variant detected

Suggests high likelihood of AGS Type 7. Clinical correlation and follow-up recommended.

📊

Variant of uncertain significance

May require additional testing or family studies. Consult genetic specialist.

📊

No pathogenic variant detected

AGS Type 7 unlikely. Consider other genetic or clinical causes for symptoms.

📊

Carrier status identified

Individual carries one mutation. Family planning and genetic counseling recommended.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if symptoms persist, worsen, or if there is a family history of AGS or similar disorders.

Limitations

  • May not detect all genetic variants
  • Requires clinical correlation for diagnosis
  • Interpretation should be done by a genetic specialist

Risks & Considerations

  • Slight pain or bruising at the blood draw site
  • Minimal risk of infection
  • Emotional impact of results

Interfering Factors

  • Sample contamination
  • Incorrect sample type
  • Degraded DNA

Frequently Asked Questions

What is Aicardi-Goutieres Syndrome Type 7?
Aicardi-Goutieres Syndrome Type 7 (AGS Type 7) is a rare genetic disorder caused by mutations in the IFIH1 gene, leading to inflammation in the brain and immune system dysfunction, with symptoms like seizures and developmental delays.
What causes AGS Type 7?
AGS Type 7 is caused by mutations in the IFIH1 gene, which impairs the immune response to viruses, resulting in autoimmune inflammation.
What are the common symptoms of AGS Type 7?
Symptoms include seizures, encephalopathy, developmental delays, muscle weakness, spasticity, microcephaly, visual impairment, hepatomegaly, splenomegaly, and lymphadenopathy.
How is AGS Type 7 diagnosed?
Diagnosis is confirmed through genetic testing, specifically Next Generation Sequencing (NGS) of the IFIH1 gene.
What is the cost of the IFIH1 Gene NGS Test?
The cost is INR 20,000, which includes genetic testing and interpretation by a genetic counselor.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for this test.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test covered by insurance schemes like PMJAY or CGHS?
Coverage may vary; it is advised to check with your insurance provider for specific schemes.
What is the significance of identifying carriers of the mutation?
Identifying carriers helps in family planning and genetic counseling to assess the risk of passing the mutation to offspring.
Are there any risks associated with the genetic test?
Risks are minimal and mainly include slight discomfort during blood draw. Emotional support may be needed when receiving results.
How should I prepare for the test?
Prepare by providing clinical history, undergoing genetic counseling, and ensuring the sample is collected as per instructions.
Where can I get the IFIH1 Gene AGS Type 7 NGS Test done?
The test is available at DNA Labs India with services across many cities in India. Book online or visit a nearby collection center.
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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