CD40 Gene Immunodeficiency type 3, with hyper-IgM NGS Genetic Test
Short Name: CD40 Gene Immunodeficiency Type 3 NGS Test
Also known as: Hyper-IgM Syndrome Type 3, CD40 Deficiency
CD40 Gene Immunodeficiency type 3, with hyper-IgM NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, 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 CD40 Gene Immunodeficiency Type 3 with Hyper-IgM by identifying mutations in the CD40 gene using next-generation sequencing (NGS) technology, enabling early intervention and personalized care.
- Test Code
- 5013
- Price
- ₹20,000
- Sample Type
- Blood, 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
Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture or using an FTA card for one drop of blood.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store samples at ambient room temperature if not processed immediately.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose CD40 Gene Immunodeficiency Type 3 with Hyper-IgM by identifying mutations in the CD40 gene using next-generation sequencing (NGS) technology, enabling early intervention and personalized care.
How to Prepare
- Ensure patient is relaxed and hydrated
- Use sterile equipment for blood collection
- Label samples correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through NGS testing can significantly improve management and quality of life for patients with CD40 gene immunodeficiency, allowing for timely interventions and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or insufficient sample
- Incorrect labeling or missing patient information
- Sample contaminated or improperly stored
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of CD40 Gene Immunodeficiency Type 3 with Hyper-IgM. Recommend immunoglobulin therapy and infection management.
No pathogenic variant detected
CD40 gene mutation not identified. Consider other genetic or immunological tests if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
If you or your child experience recurrent infections, chronic diarrhea, failure to thrive, or have a family history of immunodeficiency, consult a healthcare provider for evaluation and possible genetic testing.
Limitations
- ⚠May not detect all genetic variants in the CD40 gene
- ⚠Results require interpretation by a qualified geneticist
- ⚠Does not rule out other immunodeficiency disorders
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection or excessive bleeding
Frequently Asked Questions
What is CD40 Gene Immunodeficiency Type 3 with Hyper-IgM?
What are the common symptoms of this condition?
How is CD40 Gene Immunodeficiency Type 3 diagnosed?
What is the cost of the NGS Genetic Test at DNA Labs India?
Is home sample collection available for this test?
How long does it take to get the test results?
What sample types are accepted for this test?
Is fasting required before the test?
What should I do before the test?
Can this test detect all mutations in the CD40 gene?
Is the test covered by insurance or government schemes?
What are the next steps after a positive diagnosis?
Related Tests
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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