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LRBA Gene Immunodeficiency common variable type 8 NGS Genetic Test

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LRBA Gene Immunodeficiency common variable type 8 NGS Genetic Test

Short Name: LRBA Immunodeficiency NGS Test

Also known as: Common Variable Immunodeficiency Type 8, LRBA Deficiency, CVID Type 8

LRBA Gene Immunodeficiency common variable type 8 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect pathogenic mutations in the LRBA gene associated with common variable immunodeficiency type 8, enabling accurate diagnosis, personalized treatment, and family risk assessment.

Test Code
2423
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 Technology
Step 1

Sample Collection

No special preparation required. Ensure proper identification and consent.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist using sterile equipment.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Keep the area clean.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss the test implications and family history.
2
During the Test:Sample collection via blood draw, followed by NGS analysis in the laboratory.
3
After the Test:Receive the report and discuss results with a physician or genetic counselor for next steps.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the LRBA gene associated with common variable immunodeficiency type 8, enabling accurate diagnosis, personalized treatment, and family risk assessment.

How to Prepare

  • Verify patient identity
  • Use aseptic technique
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Genetic testing for LRBA deficiency is crucial for early diagnosis and management of immunodeficiency disorders, especially in families with a history of recurrent infections or autoimmune conditions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: Stable for years at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the LRBA gene, which are associated with common variable immunodeficiency type 8.
📊

Positive

Pathogenic variant detected, confirming LRBA gene immunodeficiency. Consult a specialist for management.

📊

Negative

No pathogenic variants detected. Clinical correlation recommended if symptoms persist.

📊

Variant of Uncertain Significance

Genetic variant found but significance unclear. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms such as recurrent infections or autoimmune issues persist, or if there is a family history of immunodeficiency, consult a healthcare provider for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of results

Interfering Factors

  • ●Sample contamination
  • ●Improper storage or handling
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestLRBA Gene Immunodeficiency common variable type 8 NGS Genetic Test
ComparisonLRBA Gene Immunodeficiency common variable type 8 NGS Genetic Test

Frequently Asked Questions

What is LRBA gene immunodeficiency?
It is a rare genetic disorder caused by mutations in the LRBA gene, leading to common variable immunodeficiency type 8, which impairs the immune system's ability to fight infections.
What are the symptoms of LRBA deficiency?
Symptoms include recurrent respiratory infections, bacterial and viral infections, chronic diarrhea, and autoimmune disorders such as thyroiditis or arthritis.
How is LRBA gene immunodeficiency diagnosed?
Diagnosis is confirmed through genetic testing, specifically Next-Generation Sequencing (NGS), to detect mutations in the LRBA gene.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is a advanced method that rapidly sequences DNA to identify genetic mutations associated with disorders like LRBA deficiency.
What is the cost of the LRBA gene test?
The test costs INR 20,000 at DNA Labs India, which includes sample collection, analysis, and report generation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across numerous cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do before the test?
No special preparation is required, but genetic counseling is recommended to understand the test and its implications.
Are there any risks associated with the test?
The test involves a standard blood draw, with minimal risks such as bruising or infection at the puncture site.
Can this test be done for children?
Yes, the test can be performed on individuals of all ages, including children, if indicated by symptoms or family history.
What if the test is positive?
A positive result confirms LRBA gene immunodeficiency. Consult a specialist for management options, which may include immunoglobulin therapy or other treatments.
Is genetic counseling provided?
Yes, DNA Labs India includes genetic counseling as part of the test package to help interpret results and discuss family risks.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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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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