IGHM Gene Agammaglobulinemia Type 1, Autosomal Recessive NGS Genetic Test
Short Name: IGHM NGS Test
Also known as: IGHM Gene Mutation Test, Agammaglobulinemia Type 1 Genetic Test, Autosomal Recessive Agammaglobulinemia NGS Panel
IGHM Gene Agammaglobulinemia Type 1, Autosomal Recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood samples. Results in Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to confirm a clinical diagnosis of agammaglobulinemia type 1 by detecting mutations in the IGHM gene. It also helps in carrier detection, prenatal diagnosis, and genetic counseling for at-risk family members.
- Test Code
- 6265
- CPT Code
- 81479
- ICD Code
- D80.0
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture
Laboratory Analysis
A blood sample is drawn from a vein in the arm using a sterile needle. The procedure is quick and usually painless.
Report Delivery
No specific aftercare is needed. The sample is sent to the laboratory for analysis. Results are typically available in 3-4 weeks.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to confirm a clinical diagnosis of agammaglobulinemia type 1 by detecting mutations in the IGHM gene. It also helps in carrier detection, prenatal diagnosis, and genetic counseling for at-risk family members.
How to Prepare
- Ensure the patient's identity is verified with two identifiers.
- Use an EDTA tube for blood collection.
- Label the tube with patient name, date, and time of collection.
- Transport the sample to the laboratory at ambient temperature (15-25°C).
- Avoid hemolysis or clotting of the sample.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of IGHM mutations is critical for timely immunoglobulin replacement therapy and improved outcomes in affected children."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Incorrect anticoagulant
- Sample received after prolonged transit (>48 hours)
- Mislabeled or unlabeled sample
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms the diagnosis of agammaglobulinemia type 1. Genetic counseling and family screening are recommended.
Negative (No pathogenic variant detected)
Does not rule out the condition; other genetic or non-genetic causes should be considered. Clinical correlation is essential.
Variant of Uncertain Significance (VUS)
Further testing of family members and functional studies may be needed to clarify the significance.
Consult a clinical geneticist or immunologist if the test result is positive or if you have concerns about your child's recurrent infections, low immunoglobulin levels, or family history of immunodeficiency.
Limitations
- ⚠This test detects mutations only in the IGHM gene; other genes causing agammaglobulinemia are not analyzed.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠NGS may not detect all types of mutations (e.g., deep intronic variants, large structural variants).
- ⚠Test results should be interpreted in the context of clinical and immunological findings.
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the puncture site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Contamination of sample with maternal cells in prenatal testing
- ●Incomplete coverage of the IGHM gene due to technical limitations
- ●Presence of large deletions/duplications not detected by standard NGS
- ●Mosaic mutations may be missed
- ●Incorrect sample labeling
Compare With Similar Tests
| Test | IGHM Gene Agammaglobulinemia Type 1, Autosomal Recessive NGS Genetic Test | Targeted IGHM Gene Sequencing | Primary Immunodeficiency NGS Panel |
|---|---|---|---|
| Comparison | IGHM Gene Agammaglobulinemia Type 1, Autosomal Recessive NGS Genetic Test |
Frequently Asked Questions
What is Agammaglobulinemia Type 1?
How is this test performed?
What is the cost of the test?
Is fasting required before the test?
How long does it take to get results?
Can this test be done on children?
Is home sample collection available?
What does a positive result mean?
What is a variant of uncertain significance (VUS)?
Will this test detect other types of agammaglobulinemia?
Is genetic counseling included?
How should the sample be transported?
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