BLNK Gene Agammaglobulinemia type 4, autosomal recessive NGS Genetic Test
Short Name: BLNK Gene Agammaglobulinemia Type 4 Test
Also known as: Autosomal Recessive Agammaglobulinemia Type 4, BLNK Deficiency, B-cell Linker Protein Deficiency, Agammaglobulinemia Type 4, ARAG4
BLNK Gene Agammaglobulinemia type 4, autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation Sequencing, Bioinformatics Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the online portal, email, and WhatsApp.. 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
The purpose of the BLNK Gene Agammaglobulinemia Type 4 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the BLNK gene that cause autosomal recessive agammaglobulinemia type 4. This test confirms a clinical or immunological diagnosis, guides treatment decisions such as initiation of immunoglobulin replacement therapy, enables carrier testing for family members, facilitates genetic counseling regarding recurrence risk, and supports prenatal or preimplantation genetic diagnosis for future pregnancies in affected families.
- Test Code
- 5573
- CPT Code
- 81479
- ICD Code
- D80.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the online portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation Sequencing, Bioinformatics Analysis
Sample Collection
A genetic counseling session is recommended before sample collection. The clinical history of the patient, including family pedigree and prior immunological test results, should be documented. No fasting is required. Inform the laboratory of any recent blood transfusions.
Method: Venipuncture
Laboratory Analysis
A peripheral blood sample of 3-5 mL is collected by venipuncture into an EDTA (lavender-top) vacutainer. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The sample is labeled with patient identifiers and transported at ambient temperature.
Report Delivery
The blood sample is processed in the molecular genetics laboratory. DNA is extracted and subjected to next-generation sequencing of the BLNK gene. Results are typically available within 3 to 4 weeks. A detailed report with variant interpretation is provided to the referring physician and genetic counselor.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the online portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the BLNK Gene Agammaglobulinemia Type 4 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the BLNK gene that cause autosomal recessive agammaglobulinemia type 4. This test confirms a clinical or immunological diagnosis, guides treatment decisions such as initiation of immunoglobulin replacement therapy, enables carrier testing for family members, facilitates genetic counseling regarding recurrence risk, and supports prenatal or preimplantation genetic diagnosis for future pregnancies in affected families.
How to Prepare
- Collect 3-5 mL peripheral blood in an EDTA (lavender-top) vacutainer under aseptic conditions
- Alternatively, one drop of blood on an FTA card or extracted DNA (minimum 1 microgram) may be submitted
- Label the sample clearly with patient name, date of birth, and unique identification number
- Transport the sample at ambient room temperature (15-30°C) to the laboratory
- Avoid hemolysis during blood collection; do not use a tourniquet for more than 60 seconds
- If using an FTA card, allow the blood spot to air-dry completely before packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"BLNK Gene Agammaglobulinemia Type 4 is a rare but clinically significant cause of early-onset recurrent infections in children. A high index of suspicion is warranted when a child presents with very low or absent immunoglobulin levels and absent B lymphocytes. NGS-based genetic testing provides definitive molecular confirmation, enabling targeted management with immunoglobulin replacement therapy and prophylactic antibiotics. Early diagnosis through genetic testing can prevent life-threatening complications and significantly improve long-term outcomes. I recommend this test for any child with suspected autosomal recessive agammaglobulinemia after initial immunological workup."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Sample received without proper patient identification or labeling
- Sample collected in incorrect anticoagulant (e.g., heparin, which can interfere with PCR and NGS)
- Sample contaminated or improperly stored
- Sample older than 7 days at ambient temperature (for whole blood)
Understanding Your Results
Pathogenic variant(s) detected (homozygous or compound heterozygous)
Confirms the diagnosis of BLNK Gene Agammaglobulinemia Type 4. The patient is expected to have absent or severely reduced B-cell numbers and agammaglobulinemia. Initiation of immunoglobulin replacement therapy and prophylactic antibiotics is recommended. Genetic counseling for the family is advised.
Likely pathogenic variant(s) detected
Strongly suggestive of BLNK Gene Agammaglobulinemia Type 4. Correlation with clinical and immunological findings is recommended. Family segregation studies may help confirm pathogenicity.
Variant of Uncertain Significance (VUS) detected
A genetic variant was identified, but current evidence is insufficient to classify it as pathogenic or benign. Clinical correlation, parental testing, and functional studies may be required. Repeat analysis or testing of additional family members is recommended.
No pathogenic variants detected
No disease-causing mutations were identified in the BLNK gene. This result does not exclude agammaglobulinemia caused by mutations in other genes (e.g., BTK, IGHM, IGLL1, CD79A, CD79B). Clinical correlation and consideration of expanded gene panel or whole exome sequencing is recommended.
Carrier status (heterozygous pathogenic variant)
The individual carries one pathogenic variant in the BLNK gene and is a carrier of autosomal recessive agammaglobulinemia type 4. Carriers are typically clinically unaffected. Genetic counseling regarding reproductive risk is recommended.
Consult a clinical immunologist or geneticist if your child experiences recurrent severe infections (especially respiratory, ear, or sinus infections) that do not respond to standard treatment, has very low or absent immunoglobulin levels, has failure to thrive, or if there is a family history of primary immunodeficiency. Early consultation is critical for timely diagnosis and initiation of treatment to prevent life-threatening complications.
Limitations
- ⚠This test does not detect large genomic rearrangements, copy number variations, or deep intronic mutations outside the targeted regions
- ⚠Variants of Uncertain Significance (VUS) may be identified and may require further evaluation or family studies
- ⚠A negative result does not completely exclude a genetic cause of agammaglobulinemia if mutations lie outside the sequenced regions or in other genes
- ⚠Mosaicism at low levels may not be detected by standard NGS analysis
- ⚠Results should always be interpreted in conjunction with clinical findings and immunological laboratory data
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very rare risk of infection at the needle insertion site
- ●Possibility of identifying Variants of Uncertain Significance (VUS) that may cause anxiety
- ●Potential for incidental findings unrelated to the primary indication
- ●Emotional or psychological impact of genetic diagnosis on the patient and family
Interfering Factors
- ●Degraded or insufficient DNA quality from the submitted sample
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Hemolyzed or improperly stored blood samples
- ●Contamination during sample collection or transport
Compare With Similar Tests
| Test | BLNK Gene Agammaglobulinemia type 4, autosomal recessive NGS Genetic Test | Sanger Sequencing of BLNK Gene | Immunoglobulin Level Testing (IgG, IgA, IgM) | B-Cell Subset Flow Cytometry (CD19/CD20) | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|
| Comparison | BLNK Gene Agammaglobulinemia type 4, autosomal recessive NGS Genetic Test |
Frequently Asked Questions
What is BLNK Gene Agammaglobulinemia Type 4?
How is BLNK Gene Agammaglobulinemia Type 4 inherited?
What are the symptoms of BLNK Gene Agammaglobulinemia Type 4?
How is BLNK Gene Agammaglobulinemia Type 4 diagnosed?
What is NGS Genetic Testing and how does it work?
What is the cost of the BLNK Gene Agammaglobulinemia Type 4 NGS Genetic Test?
What sample is required for this test?
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