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SH2D1A Gene Lymphoproliferative syndrome, X-linked type 1 NGS Genetic Test

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SH2D1A Gene Lymphoproliferative syndrome, X-linked type 1 NGS Genetic Test

Also known as: Lymphoproliferative syndrome, X-linked type 1, XLP-1

SH2D1A Gene Lymphoproliferative syndrome, X-linked type 1 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)Male🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to diagnose X-linked lymphoproliferative syndrome type 1 (XLP-1) by detecting mutations in the SH2D1A gene using next-generation sequencing technology.

Test Code
5601
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with XLP-1.

Method: Venipuncture for blood sample

Step 2

Laboratory Analysis

Standard blood collection procedure via venipuncture.

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:Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with XLP-1.
2
During the Test:Standard blood collection procedure via venipuncture.
3
After the Test:Apply pressure to the puncture site to stop bleeding. Keep the area clean.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose X-linked lymphoproliferative syndrome type 1 (XLP-1) by detecting mutations in the SH2D1A gene using next-generation sequencing technology.

How to Prepare

  • Provide clinical history
  • Undergo genetic counseling
  • Draw pedigree chart
  • Collect blood sample as specified

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood sample

Understanding Your Results

Results are interpreted by analyzing the SH2D1A gene for mutations. A positive result indicates a diagnosis of XLP-1.
📊

Positive for SH2D1A mutation

Diagnosis of X-linked lymphoproliferative syndrome type 1 confirmed.

📊

Negative for SH2D1A mutation

No mutations detected; clinical correlation recommended.

⚠️ When to Consult a Doctor:

If you experience symptoms such as recurrent infections, enlarged spleen or liver, or other signs of immune dysfunction, consult a healthcare provider.

Limitations

  • May not detect all types of mutations
  • Requires genetic counseling for interpretation

Frequently Asked Questions

What is X-linked lymphoproliferative syndrome type 1 (XLP-1)?
XLP-1 is a rare genetic disorder caused by mutations in the SH2D1A gene, leading to immune system dysfunction and increased susceptibility to infections and other complications.
What causes XLP-1?
XLP-1 is caused by mutations in the SH2D1A gene, which is inherited in an X-linked recessive pattern, primarily affecting males.
What are the symptoms of XLP-1?
Symptoms include recurrent infections, enlarged spleen and liver, low platelet count, anemia, lymphoma, and hemophagocytic lymphohistiocytosis (HLH).
How is XLP-1 diagnosed?
XLP-1 is diagnosed through genetic testing, such as NGS, to detect mutations in the SH2D1A gene, along with clinical evaluation and blood tests.
What is the SH2D1A Gene NGS Genetic Test?
This test uses next-generation sequencing to analyze the SH2D1A gene for mutations, providing accurate diagnosis of XLP-1.
How is the test performed?
The test involves collecting a blood sample or extracted DNA, which is then analyzed using NGS technology to identify mutations.
What sample is required for the test?
The sample can be 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.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks after sample collection.
What is the cost of the test?
The cost of the SH2D1A Gene NGS Genetic Test at DNA Labs India is INR 20000, with free home sample collection available.
Is the test covered by insurance?
Insurance coverage may vary; it is recommended to check with your insurance provider before testing.
Where can I get the test done?
The test is available at DNA Labs India with free home collection across numerous cities in India, including Mumbai, Delhi, Bangalore, and more.
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.

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