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NLRP12 Gene Cold autoinflammatory syndrome type 2 NGS Genetic Test

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NLRP12 Gene Cold autoinflammatory syndrome type 2 NGS Genetic Test

Short Name: NLRP12 Gene CAS Type 2 Test

Also known as: Familial Cold Autoinflammatory Syndrome Type 2, FCAS2

NLRP12 Gene Cold autoinflammatory syndrome type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the NLRP12 Gene Cold Autoinflammatory Syndrome Type 2 NGS Genetic Test is to detect mutations in the NLRP12 gene that cause Familial Cold Autoinflammatory Syndrome Type 2. This test aids in confirming diagnosis, guiding treatment, and informing family planning decisions.

Test Code
2380
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session recommended to discuss family history and implications of testing.

Method: Venipuncture or Dried Blood Spot

Step 2

Laboratory Analysis

A small blood sample is drawn from a vein or a drop of blood is applied to an FTA card.

Step 3

Report Delivery

The sample is labeled and transported to the laboratory under controlled conditions.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide family history.
2
During the Test:Sample collection via blood draw or FTA card.
3
After the Test:Wait for results and discuss with a geneticist or dermatologist.

About This Test

Who Should Get This Test

The purpose of the NLRP12 Gene Cold Autoinflammatory Syndrome Type 2 NGS Genetic Test is to detect mutations in the NLRP12 gene that cause Familial Cold Autoinflammatory Syndrome Type 2. This test aids in confirming diagnosis, guiding treatment, and informing family planning decisions.

How to Prepare

  • Provide detailed clinical history
  • Complete genetic counseling session
  • Draw pedigree chart of affected family members
  • Ensure proper sample labeling

Doctor's Notes

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

"Early genetic testing for NLRP12 mutations can aid in managing symptoms and providing targeted care for patients with cold-triggered autoinflammatory episodes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or Dried Blood Spot
Sample Rejection Criteria:
  • Hemolyzed sample
  • Incorrect sample type
  • Inadequate sample volume

Understanding Your Results

Interpretation of the NLRP12 Gene Test results should be done by a qualified geneticist or healthcare provider in the context of clinical findings.
Negative result: No pathogenic variants detected in NLRP12 gene
Positive result: Pathogenic variant identified, confirming diagnosis
Variant of uncertain significance (VUS): Further testing or clinical correlation needed
⚠️ When to Consult a Doctor:

Consult a healthcare provider if the test is positive or if symptoms persist despite a negative result.

Limitations

  • May not detect novel or rare variants
  • Does not rule out other genetic causes
  • Requires clinical correlation

Risks & Considerations

  • Minimal pain from blood draw
  • Rare risk of bruising or infection
  • No significant long-term risks

Interfering Factors

  • Poor sample quality
  • Contamination during collection
  • Insufficient DNA quantity

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Frequently Asked Questions

What is NLRP12 Gene Cold Autoinflammatory Syndrome Type 2?
It is a rare genetic disorder caused by mutations in the NLRP12 gene, leading to recurrent episodes of fever, rash, and joint pain, often triggered by cold exposure.
What are the common symptoms?
Symptoms include fever, skin rash, joint pain, fatigue, muscle pain, and headaches, typically occurring after cold or stress.
How is the syndrome diagnosed?
Diagnosis is through genetic testing, specifically the NGS Genetic Test for mutations in the NLRP12 gene.
What does the NGS Genetic Test entail?
It uses Next Generation Sequencing technology to analyze the NLRP12 gene for mutations from a blood sample.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, including home sample collection.
Is home sample collection available?
Yes, free home sample collection is available across many cities in India.
How long does it take to receive results?
Results are typically available within 3 to 4 weeks.
What should I do if the test result is positive?
Consult a geneticist or dermatologist for further management and treatment options.
Are there any risks to the test?
The test involves a standard blood draw with minimal risks like pain or bruising.
Can children undergo this test?
Yes, the test can be performed on individuals of all ages, with appropriate consent.
How accurate is the genetic test?
The NGS technology provides high accuracy for detecting known mutations, but interpretation requires clinical correlation.
Is genetic counseling included with the test?
Yes, a genetic counseling session is recommended and included as part of the pre-test information.
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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Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

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