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PIK3R1 Gene Immunodeficiency type 36 NGS Genetic Test

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PIK3R1 Gene Immunodeficiency type 36 NGS Genetic Test

Short Name: PIK3R1 Immunodeficiency Type 36 Test

Also known as: PIK3R1 Immunodeficiency Test, Immunodeficiency Type 36 Genetic Test, PIK3R1 Gene Test

PIK3R1 Gene Immunodeficiency type 36 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

The purpose of the PIK3R1 Gene Immunodeficiency Type 36 NGS Genetic Test is to detect mutations in the PIK3R1 gene for accurate diagnosis of Immunodeficiency Type 36, aiding in early intervention, genetic counseling, and personalized treatment approaches.

Test Code
5019
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

Genetic counseling is recommended to understand the test implications and draw a family pedigree chart.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

A blood sample is drawn by a trained professional using venipuncture or collected via FTA card.

Step 3

Report Delivery

The sample is sent to the laboratory for NGS analysis, and results are delivered within 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss family history, test implications, and obtain informed consent.
2
During the Test:Sample collection via blood draw or FTA card, performed by a healthcare professional.
3
After the Test:Wait for 3-4 weeks for results; follow up with a geneticist or immunologist for interpretation and management.

About This Test

Who Should Get This Test

The purpose of the PIK3R1 Gene Immunodeficiency Type 36 NGS Genetic Test is to detect mutations in the PIK3R1 gene for accurate diagnosis of Immunodeficiency Type 36, aiding in early intervention, genetic counseling, and personalized treatment approaches.

How to Prepare

  • No fasting required
  • Bring valid ID and doctor's prescription
  • Ensure proper labeling of samples

Doctor's Notes

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

"Genetic testing for PIK3R1 mutations is crucial for early diagnosis and management of rare immunodeficiency disorders, especially in families with a history of immune issues."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood: Stable for 24 hours at room temperature
FTA card: Stable for several weeks at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PIK3R1 gene, which are associated with Immunodeficiency Type 36.
📊

Positive for mutation

Confirms diagnosis of PIK3R1 Gene Immunodeficiency Type 36; genetic counseling and specialized care recommended.

📊

Negative for mutation

No pathogenic variant detected; clinical correlation and further testing may be needed if symptoms persist.

📊

Variant of uncertain significance

Requires additional family studies and clinical evaluation for interpretation.

⚠️ When to Consult a Doctor:

If you experience recurrent infections, chronic diarrhea, failure to thrive, autoimmune symptoms, or have a family history of immunodeficiency, consult a healthcare professional for evaluation and possible genetic testing.

Limitations

  • May not detect all possible mutations
  • Requires genetic counseling for interpretation
  • Results should be correlated with clinical symptoms

Risks & Considerations

  • Minimal risk from blood draw (e.g., bruising, infection)
  • Potential psychological impact of genetic results
  • Risk of genetic discrimination in some contexts

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Improper sample storage

Compare With Similar Tests

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ComparisonPIK3R1 Gene Immunodeficiency type 36 NGS Genetic Test

Frequently Asked Questions

What is the PIK3R1 Gene Immunodeficiency Type 36 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the PIK3R1 gene, which causes Immunodeficiency Type 36, a rare immune disorder.
What are the symptoms of PIK3R1 Gene Immunodeficiency Type 36?
Symptoms include recurrent infections, chronic diarrhea, failure to thrive, autoimmune disorders, and increased cancer risk.
How is the test performed?
The test involves collecting a blood sample or DNA extract, which is analyzed using NGS technology to identify mutations in the PIK3R1 gene.
What is the cost of the test in India?
The cost is approximately INR 20,000, with home sample collection available at no extra charge.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for this test.
Who should consider this test?
Individuals with symptoms of immunodeficiency, family history of the disorder, or those recommended by a healthcare provider.
What does a positive result mean?
A positive result confirms a mutation in the PIK3R1 gene, indicating Immunodeficiency Type 36, and requires genetic counseling and specialized care.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, but genetic results may have psychological implications.
Can the test be done for children?
Yes, the test is suitable for all ages, including children, especially if symptoms are present.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting mutations in the PIK3R1 gene, making it the most reliable method for diagnosis.
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 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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