RFXANK Gene Bare lymphocyte syndrome, type 2 NGS Genetic Test
Short Name: RFXANK BLS Type 2 NGS Test
Also known as: BLS Type 2, MHC Class II Deficiency
RFXANK Gene Bare lymphocyte syndrome, type 2 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose Bare Lymphocyte Syndrome Type 2 by detecting mutations in the RFXANK gene using NGS technology, aiding in clinical management and genetic counseling.
- Test Code
- 4854
- 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
Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.
Method: Venipuncture or Saliva Collection
Laboratory Analysis
A blood sample will be drawn via venipuncture or a saliva sample collected, with minimal discomfort.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless otherwise advised.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Bare Lymphocyte Syndrome Type 2 by detecting mutations in the RFXANK gene using NGS technology, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure proper identification of the patient.
- Use sterile collection tubes.
- Label samples accurately with patient details.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for RFXANK mutations can aid in timely management and family planning for Bare Lymphocyte Syndrome Type 2."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Hemolyzed or improperly labeled samples
- Insufficient sample volume
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Bare Lymphocyte Syndrome Type 2. Consult a geneticist or immunologist for management.
Negative for pathogenic variant
No mutations detected in RFXANK gene. Consider other genetic or immunological tests if clinical suspicion remains.
Consult a doctor if you experience recurrent infections, chronic diarrhea, or failure to thrive, especially with a family history of immunodeficiency.
Limitations
- ⚠This test only detects mutations in the RFXANK gene and may not identify other genetic causes of immunodeficiency.
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection at the puncture site.
Frequently Asked Questions
What is the RFXANK Gene Bare Lymphocyte Syndrome Type 2 NGS Genetic Test?
What are the symptoms of Bare Lymphocyte Syndrome Type 2?
How is the test performed?
What is the cost of the test?
Is fasting required for this test?
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Is home sample collection available?
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Is this test covered by insurance?
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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.
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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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