PRF1 Gene Hemophagocytic lymphohistiocytosis type 2 NGS Genetic Test
Short Name: PRF1 HLH Type 2 NGS Test
Also known as: HLH Type 2, PRF1-related HLH, Familial HLH Type 2
PRF1 Gene Hemophagocytic lymphohistiocytosis type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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
To identify mutations in the PRF1 gene for diagnosis of Hemophagocytic Lymphohistiocytosis Type 2, enabling early intervention, treatment planning, and genetic counseling.
- Test Code
- 4957
- 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 Technology
Sample Collection
Clinical history of patient and genetic counseling session to draw a pedigree chart of affected family members.
Method: Venipuncture or FTA Card
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card by trained phlebotomist.
Report Delivery
Sample labeled and transported to lab under ambient conditions. Apply pressure to puncture site to prevent bruising.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the PRF1 gene for diagnosis of Hemophagocytic Lymphohistiocytosis Type 2, enabling early intervention, treatment planning, and genetic counseling.
How to Prepare
- Ensure proper patient identification
- Use sterile collection equipment
- Label samples accurately
- Transport at room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for PRF1 mutations can significantly improve outcomes in HLH Type 2 by enabling timely intervention and family screening."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient volume
- Improper labeling
Understanding Your Results
If symptoms of HLH persist or if genetic test results are positive, consult an immunologist or geneticist for management.
Limitations
- ⚠May not detect all genetic variants
- ⚠Results require clinical correlation
- ⚠Does not rule out other causes of HLH
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare infection risk
- ●Emotional impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Incorrect sample storage
Frequently Asked Questions
What is HLH Type 2?
What is the PRF1 gene?
How is the NGS Genetic Test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What are the symptoms of HLH Type 2?
Who should consider this test?
Is the test accurate?
What if mutations are found?
Is genetic counseling required?
How to prepare for the test?
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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.
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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