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LAMTOR2 Gene Immunodeficiency due to defect in MAPBP-interacting protein NGS Genetic Test

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LAMTOR2 Gene Immunodeficiency due to defect in MAPBP-interacting protein NGS Genetic Test

Short Name: LAMTOR2 Immunodeficiency NGS Test

Also known as: MAPBP-interacting protein deficiency, LAMTOR2-related immunodeficiency

LAMTOR2 Gene Immunodeficiency due to defect in MAPBP-interacting protein 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)🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the LAMTOR2 gene that cause immunodeficiency disorders, enabling accurate diagnosis, family planning, and personalized treatment strategies.

Test Code
2420
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

No special preparation is required. Provide clinical history and undergo genetic counseling.

Method: Venipuncture or FTA Card collection

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture or use an FTA card for one drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean.

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:A blood sample will be collected for genetic analysis using NGS technology.
3
After the Test:Results will be available in 3 to 4 weeks. Genetic counseling is recommended to discuss findings.

About This Test

Who Should Get This Test

To identify mutations in the LAMTOR2 gene that cause immunodeficiency disorders, enabling accurate diagnosis, family planning, and personalized treatment strategies.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"This test is crucial for diagnosing rare immunodeficiency disorders and guiding treatment plans, especially in patients with recurrent infections or family history."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples should be processed within 24 hours at ambient temperature
FTA cards can be stored at room temperature
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample
  • Incorrect labeling or missing information

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the LAMTOR2 gene. Positive results confirm LAMTOR2 gene immunodeficiency, while negative results may require further testing if symptoms persist.
Positive: Pathogenic variant detected, indicating LAMTOR2 gene immunodeficiency.
Negative: No pathogenic variants detected; consider other causes if symptoms are present.
Variant of uncertain significance: Further evaluation and family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a healthcare provider if you experience recurrent infections, chronic diarrhea, or other symptoms of immunodeficiency, or if you have a family history of such disorders.

Limitations

  • May not detect all genetic variants; requires genetic counseling for interpretation
  • Results should be correlated with clinical history

Risks & Considerations

  • Minor bruising or infection at the puncture site
  • Emotional impact of genetic results

Interfering Factors

  • Sample contamination
  • Improper sample collection or storage

Frequently Asked Questions

What is LAMTOR2 Gene Immunodeficiency?
It is a rare genetic disorder caused by mutations in the LAMTOR2 gene, leading to immunodeficiency and increased susceptibility to infections.
How is the LAMTOR2 Gene Immunodeficiency NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the LAMTOR2 gene from a blood or DNA sample.
What is the cost of the test at DNA Labs India?
The test costs INR 20,000, 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 get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
What are the common symptoms of LAMTOR2 Gene Immunodeficiency?
Symptoms include recurrent infections, chronic diarrhea, frequent fevers, slow growth, enlarged liver and spleen, and autoimmune disorders.
Who should consider getting this genetic test?
Individuals with a family history of immunodeficiency or presenting with symptoms like recurrent infections should consider this test.
Is the test covered by insurance schemes like PMJAY or CGHS?
Coverage varies; it is recommended to check with your insurance provider or scheme administrator.
What is the accuracy of the NGS test for LAMTOR2 gene mutations?
NGS is highly accurate for detecting genetic variants, but results should be interpreted by a genetic specialist.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw, but genetic results may have emotional implications.
How should I prepare for the test?
No special preparation is needed, but provide clinical history and undergo genetic counseling beforehand.
What do the test results mean?
Positive results indicate pathogenic variants in the LAMTOR2 gene, confirming immunodeficiency. Negative results suggest no variants detected, but further evaluation may be needed if symptoms persist.
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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