CD40LG Gene Immunodeficiency, X-linked with hyper-IgM NGS Genetic Test
Short Name: CD40LG Gene Test
Also known as: X-linked hyper-IgM syndrome, CD40 ligand deficiency, Hyper-IgM syndrome type 1
CD40LG Gene Immunodeficiency, X-linked with hyper-IgM 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose CD40LG gene mutations causing X-linked hyper-IgM syndrome, enabling early treatment and management of immunodeficiency.
- Test Code
- 5025
- 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)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with CD40LG gene immunodeficiency.
Method: Venipuncture or FTA Card
Laboratory Analysis
Your sample is analyzed using Next-Generation Sequencing (NGS) in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose CD40LG gene mutations causing X-linked hyper-IgM syndrome, enabling early treatment and management of immunodeficiency.
How to Prepare
- Use sterile technique for blood collection
- For FTA card, apply one drop of blood and air-dry
- Label samples correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for CD40LG mutations is crucial for managing hyper-IgM syndrome and preventing recurrent infections in affected individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of X-linked hyper-IgM syndrome. Genetic counseling and treatment initiation recommended.
No pathogenic variant detected
CD40LG gene mutation not identified. Consider other genetic or immunological causes if symptoms persist.
If experiencing recurrent infections, chronic diarrhea, or growth issues, especially with a family history of immunodeficiency, consult a healthcare provider for evaluation and possible genetic testing.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or intronic variants
- ⚠Results require clinical correlation and genetic counseling
Risks & Considerations
- ●Minor bruising or discomfort at blood draw site
- ●Minimal risk of infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Degraded DNA sample
- ●Contaminated sample
- ●Incorrect sample type
Frequently Asked Questions
What is CD40LG Gene Immunodeficiency?
What are the symptoms of X-linked hyper-IgM syndrome?
How is the CD40LG gene test performed?
What is the cost of the NGS Genetic Test in India?
Is home sample collection available?
How long does it take to get the test results?
What does a positive test result mean?
Can this test be done for prenatal diagnosis?
Is genetic counseling required before the test?
What are the treatment options for hyper-IgM syndrome?
Is the test covered by insurance?
How accurate is the NGS Genetic Test?
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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.
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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