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TNFRSF1A Gene Periodic fever autosomal dominant NGS Genetic Test

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TNFRSF1A Gene Periodic fever autosomal dominant NGS Genetic Test

Short Name: TNFRSF1A Gene Test

Also known as: TNFRSF1A Mutation Test, Periodic Fever Syndrome Genetic Test, TNFRSF1A-related Autoinflammatory Disorder Test

TNFRSF1A Gene Periodic fever autosomal dominant 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 from sample collection. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All ages, typically onset in childhood or adolescence🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to diagnose TNFRSF1A gene-related periodic fever syndrome by detecting pathogenic mutations through NGS, enabling early intervention, personalized management, and genetic counseling for affected individuals and their families.

Test Code
2203
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample collection
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide complete clinical history of the patient and family members. Undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture or blood spot collection

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or blood spot on FTA card as per standard procedures.

Step 3

Report Delivery

Store sample appropriately and transport to laboratory. Follow up for report after 3 to 4 weeks.

Timeline: 3 to 4 weeks from sample collection

Patient Instructions

1
Before the Test:Genetic counseling and clinical history evaluation.
2
During the Test:Blood sample collection and DNA analysis using NGS technology.
3
After the Test:Report generation and delivery, followed by genetic counseling for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose TNFRSF1A gene-related periodic fever syndrome by detecting pathogenic mutations through NGS, enabling early intervention, personalized management, and genetic counseling for affected individuals and their families.

How to Prepare

  • No fasting required before sample collection
  • Bring valid ID and physician's prescription
  • Ensure sample is correctly labeled with patient details
  • For home collection, ensure a clean and safe environment

Doctor's Notes

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

"Early genetic testing for TNFRSF1A mutations can guide personalized treatment and management of periodic fever episodes, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL of blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood spot collection

Sample Stability

Blood in EDTA tube: stable at room temperature for 48 hours
FTA card blood spot: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling or identification mismatch
  • Sample contaminated or improperly stored

Understanding Your Results

Test results indicate the presence or absence of pathogenic mutations in the TNFRSF1A gene, which are associated with autosomal dominant periodic fever syndrome.
📊

Confirms diagnosis of TNFRSF1A-related periodic fever syndrome. Genetic counseling and clinical management recommended.

Result type: Positive (Pathogenic variant detected)

📊

Does not rule out other periodic fever syndromes; clinical correlation and further testing may be needed.

Result type: Negative (No pathogenic variant detected)

📊

Genetic variant identified but clinical significance unclear. Family studies and follow-up recommended.

Result type: Variant of Uncertain Significance

⚠️ When to Consult a Doctor:

Consult a geneticist or healthcare provider immediately after receiving test results to discuss management options, treatment, and genetic counseling for the patient and family members.

Limitations

  • May not detect all types of genetic variants (e.g., large deletions)
  • Requires genetic counseling for accurate interpretation
  • Results should be correlated with clinical history and symptoms

Risks & Considerations

  • Minimal risk associated with blood draw (e.g., slight pain, bruising)
  • No significant risks from the genetic test itself

Interfering Factors

  • Contaminated DNA sample
  • Improper storage or handling of sample
  • Insufficient sample volume

Compare With Similar Tests

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ComparisonTNFRSF1A Gene Periodic fever autosomal dominant NGS Genetic Test

Frequently Asked Questions

What is the TNFRSF1A Gene Periodic Fever Test?
This is a genetic test using Next-Generation Sequencing (NGS) to detect mutations in the TNFRSF1A gene, which causes autosomal dominant periodic fever syndrome.
Who should consider getting this test?
Individuals with recurring fever episodes, abdominal pain, joint pain, rash, or a family history of periodic fever syndromes should consider this test.
What symptoms indicate TNFRSF1A-related periodic fever?
Symptoms include recurrent fever lasting several days, abdominal pain, joint swelling, skin rash, headache, fatigue, and eye inflammation.
How is the test performed?
A blood sample is collected and analyzed in a laboratory using NGS technology to identify mutations in the TNFRSF1A gene.
What is the cost of the TNFRSF1A Gene Test?
The test costs INR 20,000 in India, including home sample collection across multiple cities.
Is this test covered by insurance?
Typically, genetic tests like this are not covered by insurance in India. Check with your provider for specific details.
How long does it take to get results?
Results are usually available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across numerous cities in India.
What are the risks of the test?
The risks are minimal, primarily related to blood draw, such as slight pain or bruising. No major genetic risks are associated with the test.
How should I interpret the test results?
Results indicate the presence or absence of pathogenic mutations. Genetic counseling is recommended to understand implications for diagnosis and management.
How does this test differ from other genetic tests for periodic fever?
This test specifically targets the TNFRSF1A gene using NGS, providing comprehensive analysis, while other tests may focus on different genes or use older technologies.
Where can I get the TNFRSF1A Gene Test done?
You can book the test through DNA Labs India online or at walk-in centers across India, with home collection services available.
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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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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