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SP110 Gene Hepatic venoocclusive disease with immunodeficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SP110 Gene Hepatic venoocclusive disease with immunodeficiency NGS Genetic Test

Short Name: SP110 Gene VODI NGS Test

Also known as: Hepatic Venoocclusive Disease with Immunodeficiency, VODI, SP110-related disorder

SP110 Gene Hepatic venoocclusive disease with immunodeficiency 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.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Hepatic Venoocclusive Disease with Immunodeficiency (VODI) by detecting pathogenic mutations in the SP110 gene using NGS technology.

Test Code
5420
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
Step 1

Sample Collection

No special preparation required. Ensure proper identification and documentation.

Method: Blood draw or Cheek swab

Step 2

Laboratory Analysis

Sample will be collected via blood draw or cheek swab by trained personnel in a sterile environment.

Step 3

Report Delivery

Apply pressure to the puncture site if blood drawn. Store sample as instructed for stability.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation required. Provide clinical history and family pedigree if available.
2
During the Test:Sample collection via blood draw or cheek swab, followed by NGS analysis in the laboratory.
3
After the Test:Results are delivered within 3 to 4 weeks. Genetic counseling is recommended for interpretation.

About This Test

Who Should Get This Test

To diagnose Hepatic Venoocclusive Disease with Immunodeficiency (VODI) by detecting pathogenic mutations in the SP110 gene using NGS technology.

How to Prepare

  • Avoid contamination of the sample
  • Label sample correctly with patient details
  • Follow instructions for sample storage and transport

Doctor's Notes

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

"This test is crucial for diagnosing VODI and guiding treatment plans for liver and immune system management."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL blood or equivalent DNA
ContainerEDTA tube or FTA card
Collection MethodBlood draw or Cheek swab

Sample Stability

Blood sample stable for 24 hours at room temperature
Extracted DNA stable for up to 7 days at 4°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Unlabeled or improperly stored sample

Understanding Your Results

Results indicate the presence or absence of mutations in the SP110 gene associated with Hepatic Venoocclusive Disease with Immunodeficiency.
Positive result: Pathogenic mutation detected, confirming diagnosis and guiding treatment.
Negative result: No pathogenic mutation detected, but clinical correlation and further testing may be needed.
Variant of uncertain significance: Requires additional family studies or functional analysis for clarification.
⚠️ When to Consult a Doctor:

If symptoms persist or worsen, or if there is a family history of VODI, consult a geneticist or hepatologist for further evaluation.

Limitations

  • May not detect all possible mutations in the SP110 gene
  • Requires genetic counseling for accurate interpretation
  • Not a diagnostic tool for other liver or immune disorders

Risks & Considerations

  • Minimal risk from blood draw such as bruising or infection
  • Psychological impact of genetic results

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Incorrect sample type or handling

Frequently Asked Questions

What is Hepatic Venoocclusive Disease with Immunodeficiency (VODI)?
VODI is a rare genetic disorder caused by mutations in the SP110 gene, affecting the liver and immune system, leading to symptoms like jaundice and recurrent infections.
What causes VODI?
VODI is caused by mutations in the SP110 gene, which disrupts immune response and liver function.
What are the symptoms of VODI?
Symptoms include jaundice, fatigue, abdominal pain, liver enlargement, and increased susceptibility to infections.
How is the SP110 Gene NGS Genetic Test performed?
The test involves collecting a DNA sample via blood draw or cheek swab, which is then analyzed using Next Generation Sequencing technology.
What does a positive test result mean?
A positive result indicates the presence of pathogenic mutations in the SP110 gene, confirming a diagnosis of VODI.
What does a negative test result mean?
A negative result means no pathogenic mutations were detected, but clinical correlation is advised if symptoms persist.
Is the test painful or invasive?
The test is minimally invasive, involving a simple blood draw or cheek swab with little to no discomfort.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The cost of the SP110 Gene NGS Genetic Test is INR 20,000, with free home sample collection available.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
Who should consider this test?
Individuals with symptoms of VODI, a family history of the disorder, or those seeking genetic counseling should consider this test.
How can I prepare for the test?
No special preparation is required. Ensure you have your clinical history and family pedigree information ready for consultation.
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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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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