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DNA Labs India

CTLA4 Gene Lymphoproliferative syndrome, autoimmune, type 5 NGS Genetic Test

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CTLA4 Gene Lymphoproliferative syndrome, autoimmune, type 5 NGS Genetic Test

Short Name: CTLA4 Gene Test

Also known as: Type 5 autoimmune lymphoproliferative syndrome, ALPS Type 5

CTLA4 Gene Lymphoproliferative syndrome, autoimmune, type 5 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.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to diagnose CTLA4 Gene Lymphoproliferative Syndrome by identifying genetic mutations in the CTLA4 gene using NGS technology, enabling early intervention and management.

Test Code
5599
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

A genetic counseling session is recommended to draw a pedigree chart of family members affected with CTLA4-related disorders.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Standard blood draw procedure or FTA card collection following aseptic techniques.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis, and results are generated within 3 to 4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and assessment of family history and clinical symptoms.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Report generation and genetic counseling to discuss results and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose CTLA4 Gene Lymphoproliferative Syndrome by identifying genetic mutations in the CTLA4 gene using NGS technology, enabling early intervention and management.

How to Prepare

  • Ensure proper sample labeling with patient details
  • Follow aseptic techniques to avoid contamination
  • Use appropriate containers for blood or FTA card

Doctor's Notes

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

"Early diagnosis through NGS testing is crucial for managing symptoms and preventing complications in CTLA4-related disorders. Genetic counseling is recommended for all patients."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood samples are stable for 48 hours at room temperature
Extracted DNA can be stored at -20°C for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CTLA4 gene. A positive result confirms CTLA4 Gene Lymphoproliferative Syndrome, while a negative result may require further clinical evaluation.
📊

Positive

Pathogenic variant detected, confirming diagnosis. Consult a genetic specialist for management.

📊

Negative

No pathogenic variant detected. Clinical correlation and additional testing may be needed if symptoms persist.

⚠️ When to Consult a Doctor:

If you experience symptoms such as enlarged spleen, frequent infections, or autoimmune issues, or if you have a family history of CTLA4-related disorders, consult a genetic specialist immediately.

Limitations

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

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Emotional impact of genetic results, requiring counseling support

Interfering Factors

  • Poor sample quality
  • Contamination during collection
  • Incorrect sample storage

Frequently Asked Questions

What is CTLA4 Gene Lymphoproliferative Syndrome?
It is a rare autoimmune disorder caused by mutations in the CTLA4 gene, leading to an overactive immune system that attacks healthy cells, resulting in autoimmune diseases and symptoms like enlarged spleen and frequent infections.
What are the common symptoms of this syndrome?
Symptoms include enlarged spleen and lymph nodes, frequent infections, anemia, low platelet counts, skin rashes, joint pain and swelling, and autoimmune diseases such as rheumatoid arthritis or lupus.
How is CTLA4 Gene Lymphoproliferative Syndrome diagnosed?
Diagnosis is confirmed through genetic testing, specifically Next-Generation Sequencing (NGS), which identifies mutations in the CTLA4 gene.
What is the cost of the NGS Genetic Test for this syndrome?
The cost is INR 20,000 at DNA Labs India, 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 within 3 to 4 weeks after sample collection.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider getting this test?
Individuals with symptoms of autoimmune disorders, a family history of CTLA4-related conditions, or those with unexplained enlarged spleen or frequent infections should consider this test.
What are the treatment options after a positive diagnosis?
Treatment may include immunosuppressive therapies, regular monitoring, and management of specific symptoms. Consult a genetic specialist for personalized care.
Is the test covered by insurance schemes like PMJAY or CGHS?
Coverage varies; it is advisable to check with your insurance provider or scheme administrator for specific details.
How accurate is the NGS Genetic Test for this syndrome?
NGS is a highly accurate method for detecting genetic mutations, but results should be interpreted by a qualified geneticist in conjunction with clinical findings.
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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