LIPA Gene Cholesteryl ester storage disease NGS Genetic Test
Short Name: LIPA Gene NGS Test
Also known as: Wolman Disease, CESD, LAL Deficiency
LIPA Gene Cholesteryl ester storage 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the LIPA Gene NGS Genetic Test is to identify mutations in the LIPA gene responsible for Cholesteryl Ester Storage Disease. This test confirms diagnosis, guides treatment strategies, facilitates genetic counseling for families, and helps monitor disease progression. It is vital for differentiating CESD from other metabolic disorders and enabling personalized medical care.
- Test Code
- 4650
- 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)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Cholesteryl Ester Storage Disease are required.
Method: Venipuncture or FTA Card
Laboratory Analysis
Your sample is analyzed using Next-Generation Sequencing (NGS) in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the LIPA Gene NGS Genetic Test is to identify mutations in the LIPA gene responsible for Cholesteryl Ester Storage Disease. This test confirms diagnosis, guides treatment strategies, facilitates genetic counseling for families, and helps monitor disease progression. It is vital for differentiating CESD from other metabolic disorders and enabling personalized medical care.
How to Prepare
- For blood sample: Collect via venipuncture in an EDTA tube.
- For FTA card: Use one drop of blood and air-dry as per instructions.
- Ensure proper labeling and transport at ambient room temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for LIPA gene mutations is crucial for timely intervention and management of Cholesteryl Ester Storage Disease, especially in families with a history of metabolic disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Cholesteryl Ester Storage Disease. Genetic counseling and management plan recommended.
Variant of uncertain significance (VUS)
Further testing and family studies may be needed. Clinical follow-up advised.
No pathogenic variant detected
Reduces likelihood of CESD due to LIPA mutations, but does not rule out other causes. Clinical evaluation continues.
Consult a doctor if you or a family member experience symptoms like enlarged liver/spleen, abdominal pain, fatty stools, or poor growth, especially with a family history of metabolic disorders. Genetic counseling is advised before testing.
Limitations
- ⚠This test may not detect all genetic variants, including large deletions or duplications.
- ⚠Results should be interpreted in conjunction with clinical findings and family history.
- ⚠Genetic counseling is recommended before and after testing.
Risks & Considerations
- ●Minimal physical risks from blood draw (e.g., bruising, infection).
- ●Psychological risks related to genetic diagnosis, such as anxiety or family implications.
- ●Potential for uncertain results requiring further investigation.
Frequently Asked Questions
What is Cholesteryl Ester Storage Disease (CESD)?
What are the common symptoms of CESD?
How is CESD diagnosed?
What does the LIPA Gene NGS Genetic Test involve?
What is the cost of the LIPA Gene NGS Test in India?
Is fasting required for this test?
How long does it take to get results?
Can this test be done at home?
What should I do if the test is positive?
Is genetic counseling necessary before testing?
Are there any risks associated with this test?
How accurate is the LIPA Gene NGS Test?
Related Tests
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.
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.