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MBL2 Gene Mannose-binding protein deficiency NGS Genetic Test

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MBL2 Gene Mannose-binding protein deficiency NGS Genetic Test

Short Name: MBL2 Gene NGS Test

Also known as: MBL deficiency, Mannose-binding lectin deficiency, MBL2 deficiency

MBL2 Gene Mannose-binding protein deficiency 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.

Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the MBL2 Gene NGS Genetic Test is to identify mutations in the MBL2 gene that cause mannose-binding protein deficiency, enabling accurate diagnosis, risk assessment for infections and related conditions, and informed management decisions.

Test Code
2133
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 specific preparation required; inform the lab about any medications or recent blood transfusions.

Method: Venipuncture or FTA card spot collection

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or a spot blood sample on an FTA card; procedure takes a few minutes.

Step 3

Report Delivery

Apply pressure to the collection site; resume normal activities; store samples as instructed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No fasting required; provide clinical and family history during genetic counseling.
2
During the Test:Sample collection via blood draw or FTA card; sent to laboratory for NGS analysis.
3
After the Test:Wait for results; schedule genetic counseling to interpret findings; follow doctor's advice.

About This Test

Who Should Get This Test

The purpose of the MBL2 Gene NGS Genetic Test is to identify mutations in the MBL2 gene that cause mannose-binding protein deficiency, enabling accurate diagnosis, risk assessment for infections and related conditions, and informed management decisions.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label samples correctly with patient details
  • Transport samples at ambient temperature unless specified

Doctor's Notes

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

"Genetic testing for MBL2 deficiency is essential for patients with recurrent infections or family history, helping to guide personalized treatment and management strategies."

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 or equivalent DNA
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spot collection

Sample Stability

Blood sample: stable for 7 days at 2-8°C
FTA card: stable at room temperature for up to 1 month
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results from the MBL2 Gene NGS Genetic Test indicate the presence or absence of mutations in the MBL2 gene, helping diagnose mannose-binding protein deficiency and guide clinical management.
Normal result: No pathogenic variants detected; low risk of deficiency
Carrier result: One mutated allele; may have reduced lectin levels but often asymptomatic
Affected result: Two mutated alleles; high risk of deficiency and related symptoms
Genetic counseling recommended for all results to understand implications
⚠️ When to Consult a Doctor:

Consult a healthcare provider if you have recurrent infections, a family history of immunodeficiency, or after receiving test results for further evaluation and management.

Limitations

  • May not detect all rare or novel mutations
  • Requires genetic counseling for interpretation
  • Does not predict disease severity or onset in all cases

Risks & Considerations

  • Minimal risks from blood draw, such as bruising or discomfort
  • Psychological impact of genetic results; counseling available

Interfering Factors

  • Sample contamination
  • Degraded DNA quality
  • Improper sample collection or handling

Compare With Similar Tests

TestMBL2 Gene Mannose-binding protein deficiency NGS Genetic Test
ComparisonMBL2 Gene Mannose-binding protein deficiency NGS Genetic Test

Frequently Asked Questions

What is MBL2 gene deficiency?
MBL2 gene deficiency is a genetic disorder caused by mutations in the MBL2 gene, leading to reduced mannose-binding lectin production and increased risk of infections.
What are the symptoms of mannose-binding protein deficiency?
Symptoms include recurrent respiratory infections, fever, cough, sinusitis, pneumonia, ear infections, meningitis, and increased risk of autoimmune diseases and cancers.
How is the MBL2 Gene NGS Genetic Test performed?
The test uses next-generation sequencing to analyze DNA from blood or FTA card samples for mutations in the MBL2 gene.
What is the cost of the test?
The cost is INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, free home collection is offered in numerous cities for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample receipt.
Who should consider this genetic test?
Individuals with recurrent infections, family history of MBL2 deficiency, or suspected immunodeficiency should consider testing.
Is the test accurate?
Yes, the NGS-based test is highly accurate and can provide a definitive diagnosis for MBL2 gene mutations.
What do the test results indicate?
Results show whether pathogenic variants are present in the MBL2 gene, indicating normal, carrier, or affected status.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to interpret results and understand implications.
Can the test detect all mutations?
The test is comprehensive but may not detect all rare or novel mutations; limitations are discussed in the report.
Is the test covered by insurance?
Coverage varies by insurance provider; it is not typically covered under government schemes like PMJAY, but check with your insurer.
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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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.

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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