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LIPA Gene Wolman disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

LIPA Gene Wolman disease NGS Genetic Test

Short Name: Wolman Disease Genetic Test

Also known as: LIPA Gene Sequencing Test, Wolman Disease NGS Test

LIPA Gene Wolman disease 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. Free home collection in 300+ cities across India.

NGS Genetic TestInfants🏠 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 Wolman disease by detecting mutations in the LIPA gene using Next Generation Sequencing (NGS) technology, enabling early intervention and management.

Test Code
2278
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
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history and genetic counseling session recommended prior to testing.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Standard blood draw or finger prick procedure following aseptic techniques.

Step 3

Report Delivery

Sample is properly labeled and sent to the laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are required before sample collection.
2
During the Test:Blood sample or DNA collection is performed in a clinical setting.
3
After the Test:Wait for 3-4 weeks for results, which will be delivered via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

To diagnose Wolman disease by detecting mutations in the LIPA gene using Next Generation Sequencing (NGS) technology, enabling early intervention and management.

How to Prepare

  • Avoid hemolysis during blood collection
  • Ensure proper labeling of the sample
  • Use recommended containers (EDTA tube or FTA card)

Doctor's Notes

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

"Early genetic testing for Wolman disease is crucial for timely intervention and improving patient outcomes through enzyme replacement therapy and supportive care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood sample: stable for 24 hours at room temperature
FTA card: stable for long-term storage
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or degraded sample

Understanding Your Results

Results indicate the presence or absence of mutations in the LIPA gene associated with Wolman disease, guiding clinical management.
📊

Positive

Mutation detected, consistent with Wolman disease risk. Genetic counseling and clinical evaluation recommended.

📊

Negative

No mutation detected, reducing the likelihood of Wolman disease, but symptoms may require further investigation.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of Wolman disease are present, such as enlarged liver/spleen, poor weight gain, jaundice, or if there is a known family history.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Requires genetic counseling for accurate interpretation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic test results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Compare With Similar Tests

TestLIPA Gene Wolman disease NGS Genetic TestLysosomal Storage Disease Panel
ComparisonLIPA Gene Wolman disease NGS Genetic Test

Frequently Asked Questions

What is Wolman disease?
Wolman disease is a rare genetic disorder caused by mutations in the LIPA gene, leading to deficiency of lysosomal acid lipase enzyme and accumulation of fats in tissues.
How is Wolman disease diagnosed?
Diagnosis is typically through genetic testing, such as the LIPA Gene NGS Genetic Test, which detects mutations in the LIPA gene.
What does the LIPA Gene NGS Genetic Test involve?
The test uses Next Generation Sequencing to analyze the LIPA gene from a blood or DNA sample for mutations associated with Wolman disease.
What is the cost of the test at DNA Labs India?
The test costs INR 20000, with free home sample collection available across India.
Is home collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of Wolman disease?
Symptoms include enlarged liver and spleen, poor weight gain, diarrhea, jaundice, low blood pressure, difficulty breathing, and seizures in infancy.
Is there a cure for Wolman disease?
Currently, there is no cure, but treatments like enzyme replacement therapy and supportive care can manage symptoms and improve quality of life.
Can this test be used for carrier screening?
Yes, the test can identify carriers of LIPA gene mutations, which is useful for family planning and genetic counseling.
What sample type is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart and discuss results.
How accurate is the NGS test for Wolman disease?
NGS technology provides high accuracy in detecting mutations in the LIPA gene, but it may not detect all possible variants.
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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