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STX11 Gene Hemophagocytic lymphohistiocytosis type 4 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

STX11 Gene Hemophagocytic lymphohistiocytosis type 4 NGS Genetic Test

Short Name: STX11 HLH Type 4 NGS Test

Also known as: HLH Type 4 Genetic Test, STX11 Mutation Analysis, Familial HLH Type 4 NGS Test

STX11 Gene Hemophagocytic lymphohistiocytosis type 4 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 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the STX11 Gene HLH Type 4 NGS Genetic Test is to identify pathogenic mutations in the STX11 gene, confirming a diagnosis of Hemophagocytic Lymphohistiocytosis Type 4. This enables precise clinical management, genetic counseling for affected families, and informed treatment decisions to mitigate disease progression.

Test Code
4960
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of the patient, including symptoms and family history of HLH, must be documented. A genetic counseling session is recommended to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture into an EDTA tube or as a drop on an FTA card. Standard aseptic techniques are followed to ensure sample integrity.

Step 3

Report Delivery

Sample is labeled, stored at ambient room temperature, and transported to the laboratory for processing. Patients may resume normal activities immediately after blood draw.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications, family history review, and informed consent. No specific preparation required, but clinical history should be provided.
2
During the Test:Blood sample is drawn and sent for NGS analysis. The process involves DNA extraction, sequencing, and bioinformatics analysis to identify STX11 mutations.
3
After the Test:Results are reviewed by a geneticist, and a detailed report is issued. Follow-up genetic counseling is recommended to discuss findings and next steps.

About This Test

Who Should Get This Test

The purpose of the STX11 Gene HLH Type 4 NGS Genetic Test is to identify pathogenic mutations in the STX11 gene, confirming a diagnosis of Hemophagocytic Lymphohistiocytosis Type 4. This enables precise clinical management, genetic counseling for affected families, and informed treatment decisions to mitigate disease progression.

How to Prepare

  • Fast for 4-6 hours if specified, though not required for this test
  • Avoid strenuous exercise before sample collection
  • Inform the phlebotomist of any medications or recent transfusions
  • Ensure proper identification and labeling of the sample

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for STX11 mutations is essential for confirming Hemophagocytic Lymphohistiocytosis Type 4, enabling targeted treatment and family counseling to improve patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples: Stable at room temperature for 24 hours
Extracted DNA: Stable at 2-8°C for up to 7 days
FTA card samples: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation
  • Samples collected in incorrect containers

Understanding Your Results

Results from the STX11 Gene HLH Type 4 NGS Genetic Test indicate the presence or absence of pathogenic mutations in the STX11 gene. A positive result confirms HLH Type 4, while a negative result may require further testing or clinical evaluation.
Positive result: Pathogenic STX11 mutation detected, confirming HLH Type 4 diagnosis. Immediate clinical intervention and family screening are advised.
Negative result: No pathogenic mutation found. Consider other genetic or non-genetic causes of HLH. Clinical correlation is essential.
Variant of uncertain significance (VUS): Further testing or family studies may be needed for clarification. Genetic counseling is recommended.
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms such as persistent fever, enlarged spleen, unexplained low blood counts, or neurological issues, especially with a family history of HLH. Early consultation can facilitate timely genetic testing and treatment.

Limitations

  • May not detect all possible STX11 mutations or variants of uncertain significance
  • Results require correlation with clinical findings and family history
  • Genetic counseling is recommended for interpretation
  • Does not rule out other causes of HLH

Risks & Considerations

  • Minimal risks from blood draw, such as bruising or infection at the puncture site
  • Psychological impact of genetic results; counseling support available

Interfering Factors

  • Poor sample quality (e.g., hemolyzed blood)
  • Contamination during sample collection or transport
  • Insufficient DNA quantity
  • Recent blood transfusions may affect results

Compare With Similar Tests

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ComparisonSTX11 Gene Hemophagocytic lymphohistiocytosis type 4 NGS Genetic Test

Frequently Asked Questions

What is Hemophagocytic Lymphohistiocytosis (HLH)?
HLH is a rare immune disorder where the immune system becomes overactive, attacking healthy tissues and organs, leading to life-threatening complications.
What causes HLH Type 4?
HLH Type 4 is caused by mutations in the STX11 gene, which impairs immune cell function and leads to the disease.
How is the STX11 Gene HLH Type 4 NGS Genetic Test performed?
The test uses Next Generation Sequencing to analyze the STX11 gene from a blood or DNA sample, identifying mutations associated with HLH Type 4.
Who should get this genetic test?
Individuals with symptoms of HLH, such as fever, enlarged spleen, or low blood counts, or those with a family history of HLH or genetic immune disorders.
What is the cost of the STX11 Gene HLH Type 4 NGS Genetic Test in India?
The test costs INR 20,000 at DNA Labs India, with home sample collection available across India.
Is the test covered by insurance?
Genetic testing is not always covered by insurance. Patients may need to pay out-of-pocket, but it's advisable to check with your insurance provider.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
A positive result confirms a STX11 mutation and HLH Type 4 diagnosis. A negative result may indicate no mutation, but further evaluation might be needed.
Is genetic counseling required before testing?
Yes, genetic counseling is recommended to understand the test implications, family risks, and interpretation of results.
What are the risks of the test?
The test involves minimal risks from blood draw, such as bruising. Psychological impacts are possible, so counseling support is provided.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What should I do if I test positive for an STX11 mutation?
Consult a geneticist or immunologist immediately for treatment options, which may include immunosuppressive therapy or stem cell transplantation, and consider family screening.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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