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PIK3CD Gene Immunodeficiency type 14 NGS Genetic Test

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PIK3CD Gene Immunodeficiency type 14 NGS Genetic Test

Short Name: PIK3CD Immunodeficiency Type 14 Test

Also known as: PIK3CD deficiency, Immunodeficiency type 14, Activated PI3K-delta syndrome

PIK3CD Gene Immunodeficiency type 14 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.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the PIK3CD Gene Immunodeficiency Type 14 NGS Genetic Test is to diagnose mutations in the PIK3CD gene associated with immunodeficiency type 14, enabling early detection, appropriate treatment planning, and genetic counseling for affected individuals and families.

Test Code
5003
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected by a healthcare professional via venipuncture or using an FTA card for one drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store the sample as instructed and await report delivery in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide detailed clinical and family history. No fasting is required.
2
During the Test:A small blood sample is collected from a vein in the arm. The procedure is quick and minimally invasive.
3
After the Test:Resume normal activities. Apply bandage to the collection site. Await results in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of the PIK3CD Gene Immunodeficiency Type 14 NGS Genetic Test is to diagnose mutations in the PIK3CD gene associated with immunodeficiency type 14, enabling early detection, appropriate treatment planning, and genetic counseling for affected individuals and families.

How to Prepare

  • Ensure patient is relaxed and hydrated
  • Use sterile equipment for blood collection
  • Label the sample correctly with patient details
  • Transport the sample at ambient room temperature

Doctor's Notes

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

"Early genetic testing for PIK3CD mutations can guide treatment and improve outcomes for patients with immunodeficiency, especially in cases with recurrent infections or autoimmune symptoms."

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

Sample Stability

Blood: Stable for 24 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results from the PIK3CD Gene Immunodeficiency Type 14 NGS Genetic Test indicate the presence or absence of pathogenic mutations in the PIK3CD gene. A positive result confirms diagnosis, while a negative result may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of PIK3CD gene immunodeficiency type 14. Recommend clinical management and genetic counseling.

📊

Negative for pathogenic variant

No mutations detected. Consider other genetic or non-genetic causes if symptoms persist.

📊

Variant of uncertain significance

Further testing and family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience recurrent infections, autoimmune symptoms, or have a family history of immunodeficiency. After testing, discuss results with a geneticist or immunologist for personalized care.

Limitations

  • May not detect all genetic variants or novel mutations
  • Requires genetic counseling for interpretation
  • Results should be correlated with clinical symptoms and family history

Risks & Considerations

  • Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site

Interfering Factors

  • Contaminated or degraded DNA sample
  • Improper sample collection or storage
  • Recent blood transfusions affecting DNA integrity

Compare With Similar Tests

TestPIK3CD Gene Immunodeficiency type 14 NGS Genetic TestPIK3R1 Gene TestBTK Gene TestCommon Variable Immunodeficiency PanelPrimary Immunodeficiency Comprehensive Panel
ComparisonPIK3CD Gene Immunodeficiency type 14 NGS Genetic TestTests for mutations in PIK3R1 gene, associated with similar immunodeficiency disorders.Diagnoses X-linked agammaglobulinemia, another primary immunodeficiency.Screens multiple genes linked to common variable immunodeficiency.Broad panel testing for various primary immunodeficiency disorders.

Frequently Asked Questions

What is PIK3CD Gene Immunodeficiency Type 14?
It is a rare genetic disorder caused by mutations in the PIK3CD gene, leading to a weakened immune system and increased susceptibility to infections.
What are the common symptoms of this condition?
Symptoms include recurrent infections (ear, sinus, pneumonia), skin infections, fungal infections, autoimmune disorders, and chronic gastrointestinal issues.
How is PIK3CD Immunodeficiency Type 14 diagnosed?
Diagnosis is through genetic testing, specifically NGS analysis of the PIK3CD gene to identify pathogenic mutations.
What is the cost of the PIK3CD Genetic Test at DNA Labs India?
The test costs INR 20000, with free 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 receive the test results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What does a positive test result mean?
A positive result confirms the presence of a pathogenic PIK3CD mutation, indicating immunodeficiency type 14. Consult a healthcare provider for management.
Can children undergo this genetic test?
Yes, the test is suitable for all ages, but genetic counseling is recommended for pediatric cases.
Is genetic counseling required before testing?
Yes, a genetic counseling session is recommended to draw a pedigree chart and discuss implications before testing.
What are the treatment options for PIK3CD Immunodeficiency?
Treatment may include antibiotics for infections, immunoglobulin therapy, and management of autoimmune symptoms under specialist care.
Is this test covered by insurance or government schemes?
Coverage varies; check with your insurance provider or schemes like PMJAY, CGHS, etc., as it may not be universally covered.
How accurate is the NGS genetic test for PIK3CD mutations?
NGS technology provides high accuracy for detecting genetic variants, but results should be interpreted in clinical context with genetic counseling.
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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