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SP110 Gene Hepatic venoocclusive disease with immunodeficiency NGS Genetic Test

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SP110 Gene Hepatic venoocclusive disease with immunodeficiency NGS Genetic Test

Short Name: SP110 Gene HVOD with Immunodeficiency NGS Test

Also known as: SP110-related HVOD with immunodeficiency, SP110 gene 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

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose mutations in the SP110 gene associated with hepatic venoocclusive disease and immunodeficiency, enabling early intervention, treatment planning, and genetic counseling.

Test Code
4963
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with SP110 gene disorder.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture; alternatively, DNA extraction or FTA card collection.

Step 3

Report Delivery

Sample is labeled, stored at ambient temperature, and transported to the lab for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Blood sample collection via venipuncture; minimal discomfort.
3
After the Test:Sample processed for NGS analysis; results available in 3-4 weeks.

About This Test

Who Should Get This Test

To diagnose mutations in the SP110 gene associated with hepatic venoocclusive disease and immunodeficiency, enabling early intervention, treatment planning, and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile equipment
  • Label samples accurately
  • Transport at room temperature

Doctor's Notes

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

"This NGS genetic test is essential for diagnosing SP110 gene mutations, enabling early intervention and management for hepatic venoocclusive disease and immunodeficiency."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood: 24-48 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SP110 gene. Positive results confirm the genetic basis for hepatic venoocclusive disease with immunodeficiency, while negative results may require further clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of SP110 gene disorder; recommend genetic counseling and clinical management.

📊

No pathogenic variant detected

SP110 gene mutations not identified; consider other genetic or environmental factors.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If symptoms such as jaundice, abdominal swelling, or recurrent infections persist, or if genetic test results are positive, consult a geneticist or hepatologist for management.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample storage

Compare With Similar Tests

TestSP110 Gene Hepatic venoocclusive disease with immunodeficiency NGS Genetic TestLiver Function TestImmunoglobulin LevelsWhole Exome SequencingNGS Panel for Immunodeficiency
ComparisonSP110 Gene Hepatic venoocclusive disease with immunodeficiency NGS Genetic TestAssesses liver enzymes but does not identify genetic causes.Measures immune function but not specific to SP110 mutations.Broader genetic analysis but more costly and time-consuming.Targets multiple genes but may not include SP110 specifically.

Frequently Asked Questions

What is the SP110 gene?
The SP110 gene encodes a protein involved in immune regulation and liver metabolism; mutations can cause hepatic venoocclusive disease with immunodeficiency.
What are the symptoms of SP110 gene disorder?
Symptoms include jaundice, abdominal swelling, fatigue, loss of appetite, weight loss, and recurrent infections.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the DNA sequence of the SP110 gene from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required for this test?
No, fasting is not required for the SP110 gene NGS Genetic Test.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection across many cities in India.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the SP110 gene, confirming the genetic disorder and guiding treatment.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand implications and family risks.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw; emotional support may be needed for result interpretation.
What should I do if I have symptoms?
If you experience symptoms like jaundice or recurrent infections, consult a healthcare provider for evaluation and possible testing.
How accurate is the NGS Genetic Test?
NGS technology is highly accurate for detecting genetic mutations, but results should be interpreted in clinical context.
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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For Hospitals & Clinics

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.

LIMS Integration

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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