Skip to main content
DNA Labs India

BTK Gene Agammaglobulinemia type 1, X-linked NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

BTK Gene Agammaglobulinemia type 1, X-linked NGS Genetic Test

Short Name: BTK Gene XLA Test

Also known as: X-linked agammaglobulinemia, Bruton's agammaglobulinemia, BTK deficiency

BTK Gene Agammaglobulinemia type 1, X-linked 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 SequencingMalePediatric🏠 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

The purpose of the BTK Gene NGS Genetic Test is to diagnose X-linked agammaglobulinemia by identifying pathogenic mutations in the BTK gene. This enables early treatment, management of symptoms, and informed genetic counseling for affected families.

Test Code
5567
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

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm. For FTA card, a drop of blood is applied.

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:No fasting required. Bring identification and doctor's prescription.
2
During the Test:The test involves DNA extraction and sequencing, which is performed in the lab.
3
After the Test:Results will be available in 3-4 weeks. Genetic counseling is recommended to discuss findings.

About This Test

Who Should Get This Test

The purpose of the BTK Gene NGS Genetic Test is to diagnose X-linked agammaglobulinemia by identifying pathogenic mutations in the BTK gene. This enables early treatment, management of symptoms, and informed genetic counseling for affected families.

How to Prepare

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

Doctor's Notes

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

"Early diagnosis through genetic testing is essential for managing X-linked agammaglobulinemia and providing genetic counseling to families."

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
Collection MethodVenipuncture

Sample Stability

Blood sample: stable for 48 hours at room temperature
Extracted DNA: stable for longer periods at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect sample type

Understanding Your Results

Results indicate the presence or absence of mutations in the BTK gene. A positive result confirms X-linked agammaglobulinemia, while a negative result may require further testing if clinical suspicion remains.
Pathogenic mutation detected: Diagnosis of XLA confirmed
No mutation detected: XLA unlikely, but consider other immunodeficiencies
Variant of uncertain significance (VUS): Requires further evaluation and genetic counseling
⚠️ When to Consult a Doctor:

If the test is positive or if symptoms persist despite negative results, consult a geneticist or immunologist for comprehensive evaluation and management.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a screening test for general population

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection, dizziness

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestBTK Gene Agammaglobulinemia type 1, X-linked NGS Genetic TestImmunoglobulin Levels TestB Cell CountOther Genetic Panels
ComparisonBTK Gene Agammaglobulinemia type 1, X-linked NGS Genetic Test

Frequently Asked Questions

What is X-linked agammaglobulinemia?
X-linked agammaglobulinemia (XLA) is a rare genetic disorder that affects the immune system, caused by mutations in the BTK gene, leading to recurrent infections due to lack of antibodies.
What causes X-linked agammaglobulinemia?
It is caused by mutations in the BTK gene, which is essential for B cell development and antibody production.
What are the symptoms of X-linked agammaglobulinemia?
Symptoms include recurrent bacterial and viral infections, chronic diarrhea, failure to thrive, and enlarged lymph nodes or spleen, typically appearing in early childhood.
How is X-linked agammaglobulinemia diagnosed?
Diagnosis is through genetic testing, such as the BTK Gene NGS Test, along with blood tests for antibody levels and immune function.
What is the BTK Gene NGS Genetic Test?
It is a next-generation sequencing test that analyzes the BTK gene for mutations to diagnose X-linked agammaglobulinemia.
How is the BTK Gene Test performed?
The test requires a blood or saliva sample, which is processed in the lab using NGS technology to detect gene mutations.
What is the cost of the BTK Gene Test?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result confirms a diagnosis of X-linked agammaglobulinemia, indicating mutations in the BTK gene.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not universally covered. Check with your insurer for details.
Can females be affected by X-linked agammaglobulinemia?
Females are usually carriers and rarely affected, as the disorder is X-linked recessive, primarily impacting males.
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.

Related Tests

Factor V Leiden Mutation Analysis Test

₹7,500

FIP1L1-PGDFRA Gene Rearrangement Detection Test

₹10,500

G-6-PD Quantitative Test

₹971

MPL (Myeloproliferative Leukemia) Gene Mutation Test

₹6,500

Thalassemia Alpha Mutation Analysis Test

₹5,500

Thalassemia Profile Test

₹1,814
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.

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.