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IL12A Gene Interleukin 12A deficiency NGS Genetic Test

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IL12A Gene Interleukin 12A deficiency NGS Genetic Test

Short Name: IL12A Gene Test

Also known as: IL12A Deficiency, Interleukin-12A Deficiency, IL12A Genetic Test

IL12A Gene Interleukin 12A deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Interleukin 12A deficiency by detecting pathogenic mutations in the IL12A gene using NGS technology, guiding clinical management and genetic counseling.

Test Code
5033
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
NGS, Next-Generation Sequencing
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with IL12A gene disorders.

Method: Blood Draw

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or using FTA card for one drop of blood.

Step 3

Report Delivery

Sample processed for DNA extraction and NGS analysis. Genetic counseling recommended post-test.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to understand the test implications.
2
During the Test:Blood sample collection; minimal discomfort expected.
3
After the Test:Wait for report delivery in 3-4 weeks; follow up with genetic counselor for result interpretation.

About This Test

Who Should Get This Test

To diagnose Interleukin 12A deficiency by detecting pathogenic mutations in the IL12A gene using NGS technology, guiding clinical management and genetic counseling.

How to Prepare

  • Fast not required
  • Avoid strenuous activity before blood draw
  • Ensure proper identification of patient

Doctor's Notes

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

"Genetic testing for IL12A deficiency is essential for early diagnosis and management of recurrent infections. Consult a genetic counselor for personalized care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the IL12A gene. Positive results confirm IL12A deficiency, while negative results suggest no pathogenic variants detected.
📊

Pathogenic variant detected

Confirms IL12A deficiency; recommend clinical correlation and genetic counseling.

📊

No pathogenic variant detected

No mutations found; consider other genetic or environmental causes for symptoms.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If you experience recurrent or chronic infections, especially bacterial or fungal, or if genetic test results are positive, consult a genetic counselor or healthcare provider for management.

Limitations

  • Cannot detect all genetic variants
  • Results may require confirmation with other methods
  • Does not assess protein function directly

Risks & Considerations

  • Minimal risk from blood draw
  • Psychological impact of genetic results
  • Potential for inconclusive results

Interfering Factors

  • Poor sample quality
  • Contamination during collection
  • Recent blood transfusions

Frequently Asked Questions

What is IL12A deficiency?
IL12A deficiency is a rare genetic disorder caused by mutations in the IL12A gene, leading to reduced interleukin-12 protein production and increased susceptibility to infections.
What are the symptoms of IL12A deficiency?
Symptoms include recurrent bacterial and fungal infections, chronic diarrhea, delayed wound healing, failure to thrive in infants, anemia, and enlarged liver or spleen.
How is IL12A deficiency diagnosed?
Diagnosis involves genetic testing, such as NGS, to identify mutations in the IL12A gene, often recommended for individuals with recurrent infections.
What is the cost of the IL12A Gene Test in India?
The cost is INR 20000 at DNA Labs India, with home sample collection available 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?
Reports are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider this genetic test?
Individuals with recurrent or chronic infections, especially bacterial or fungal, and those with a family history of immunodeficiency disorders.
What does a positive test result mean?
A positive result indicates the presence of pathogenic mutations in the IL12A gene, confirming IL12A deficiency and guiding treatment.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after the test to interpret results and assess family risk.
Is the test covered by insurance?
Coverage depends on the insurance provider; check with your insurer for details on genetic testing coverage.
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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LIMS Integration

Your Data Privacy

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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