LRRC8A Gene Agammaglobulinemia type 5, autosomal recessive NGS Genetic Test
Short Name: LRRC8A Agammaglobulinemia Type 5 NGS Test
Also known as: Agammaglobulinemia Type 5 Genetic Test, LRRC8A Gene Sequencing Test, Autosomal Recessive Agammaglobulinemia NGS Test
LRRC8A Gene Agammaglobulinemia type 5, autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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
The purpose of this test is to identify mutations in the LRRC8A gene to confirm a diagnosis of agammaglobulinemia type 5, an autosomal recessive immune deficiency disorder. It aids in early detection, family planning, and personalized treatment strategies.
- Test Code
- 5568
- 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
- NGS, Next-Generation Sequencing
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with agammaglobulinemia type 5.
Method: Venipuncture or blood drop on FTA card
Laboratory Analysis
Sample collection via venipuncture for blood or using an FTA card for a blood drop. The procedure is minimally invasive and performed by trained phlebotomists.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store samples as per guidelines before transportation to the lab.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the LRRC8A gene to confirm a diagnosis of agammaglobulinemia type 5, an autosomal recessive immune deficiency disorder. It aids in early detection, family planning, and personalized treatment strategies.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly with patient details
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of agammaglobulinemia type 5, especially in families with a history of immune deficiencies or recurrent infections."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrectly labeled or unlabeled samples
- Contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of agammaglobulinemia type 5. Genetic counseling and management recommended.
No pathogenic variant detected
Agammaglobulinemia type 5 unlikely based on this gene, but clinical correlation is advised.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a healthcare provider if symptoms such as recurrent infections, pneumonia, or failure to thrive are present, or if there is a family history of immune deficiencies.
Limitations
- ⚠May not detect all possible mutations or variants of uncertain significance
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minor bruising or discomfort at the puncture site
- ●Rare risk of infection or hematoma
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Improper sample storage or handling
Compare With Similar Tests
| Test | LRRC8A Gene Agammaglobulinemia type 5, autosomal recessive NGS Genetic Test | Immunoglobulin Level Test | Complete Blood Count | B Cell Count Test |
|---|---|---|---|---|
| Comparison | LRRC8A Gene Agammaglobulinemia type 5, autosomal recessive NGS Genetic Test | Measures antibody levels but does not identify genetic cause. | Evaluates overall blood health but not specific for agammaglobulinemia type 5. | Assesses B cell numbers but genetic testing confirms underlying mutation. |
Frequently Asked Questions
What is agammaglobulinemia type 5?
What are the symptoms of agammaglobulinemia type 5?
How is agammaglobulinemia type 5 diagnosed?
What does the NGS Genetic Test involve?
What is the cost of the test at DNA Labs India?
Is home sample collection available?
How long does it take to get results?
What sample types are accepted?
Is fasting required before the test?
What should I do before getting tested?
Can this test detect all mutations?
Is the test covered by insurance?
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