STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 NGS Genetic Test
Short Name: STXBP2 HLH-5 NGS Test
Also known as: HLH Type 5 Genetic Test, STXBP2 Mutation Analysis, Familial HLH Type 5 Test
STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 4-6 weeks from sample receipt. 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 pathogenic mutations in the STXBP2 gene for diagnosis of Hemophagocytic Lymphohistiocytosis Type 5 (HLH-5), enabling early intervention, family screening, and personalized management.
- Test Code
- 4961
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 4-6 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counseling recommended to discuss test implications and family history.
Method: Venipuncture
Laboratory Analysis
Standard blood draw procedure using sterile technique.
Report Delivery
Sample is labeled and transported to the laboratory under stable conditions for analysis.
Timeline: 4-6 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the STXBP2 gene for diagnosis of Hemophagocytic Lymphohistiocytosis Type 5 (HLH-5), enabling early intervention, family screening, and personalized management.
How to Prepare
- Use aseptic technique for blood collection
- Label sample with patient details and test name
- Store at ambient temperature if using FTA card
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for HLH-5 is crucial for early diagnosis, family planning, and guiding treatment in affected individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improper labeling or container
Understanding Your Results
Positive: Pathogenic variant detected
Confirms genetic cause of HLH-5; recommend clinical correlation and family testing.
Negative: No pathogenic variant detected
STXBP2 mutations not identified; consider other genetic or non-genetic causes.
Variant of Uncertain Significance (VUS)
Further evaluation needed; genetic counseling advised.
If symptoms of HLH-5 are present, such as persistent fever, enlarged organs, or neurological issues, or if there is a family history of HLH.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions)
- ⚠Requires genetic counseling for interpretation
- ⚠Results may have variants of uncertain significance (VUS)
Risks & Considerations
- ●Minimal risk from blood draw (bruising, infection)
- ●Potential psychological impact of genetic results
- ●Risk of genetic discrimination; laws may protect
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 NGS Genetic Test | PRF1 Gene HLH Test | UNC13D Gene HLH Test | RAB27A Gene HLH Test | Lyst Gene HLH Test |
|---|---|---|---|---|---|
| Comparison | STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 NGS Genetic Test |
Frequently Asked Questions
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