HEPACAM Gene Megalencephalic leukoencephalopathy with subcortical cysts 2A NGS Genetic Test
Short Name: HEPACAM MLC2A NGS Genetic Test
Also known as: HEPACAM Gene Mutation Analysis, MLC2A NGS Genetic Test, Megalencephalic Leukoencephalopathy with Subcortical Cysts Type 2A Genetic Test
HEPACAM Gene Megalencephalic leukoencephalopathy with subcortical cysts 2A 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 Results will be provided in 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the HEPACAM gene, confirming a diagnosis of Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A (MLC2A). It also supports carrier testing for at-risk family members and assists in reproductive planning.
- Test Code
- 4226
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results will be provided in 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
A valid clinical history is required. A genetic counselling session to draw a pedigree chart of family members affected with HEPACAM gene-related disease is recommended prior to testing. No fasting is required.
Method: Venipuncture or Finger Prick (FTA Card)
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using venipuncture. For FTA card collection, a drop of blood is applied to the designated area and allowed to air dry.
Report Delivery
No special precautions. You can resume all normal activities immediately. For FTA cards, ensure the sample is stored in a dry, room-temperature environment.
Timeline: Results will be provided in 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the HEPACAM gene, confirming a diagnosis of Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A (MLC2A). It also supports carrier testing for at-risk family members and assists in reproductive planning.
How to Prepare
- Blood sample can be collected in an EDTA vacutainer
- Alternatively, high-quality extracted DNA can be submitted
- One drop of blood on an FTA card is accepted
- Sample must be clearly labeled with patient name and date of collection
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic diagnosis of MLC2A is essential for appropriate management and family counseling. This NGS-based test offers reliable detection of HEPACAM mutations at an affordable cost."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood
- Improperly labeled samples
- Insufficient quantity of sample
- Samples received in formalin
Understanding Your Results
If your result is positive or you have symptoms suggestive of MLC2A, please consult a neurologist or clinical geneticist to discuss management, surveillance, and family screening.
Limitations
- ⚠This test detects mutations in the HEPACAM gene only. Other genetic causes of megalencephalic leukoencephalopathy are not covered.
- ⚠NGS may not detect large deletions/duplications, deep intronic variants, or repeat expansions.
- ⚠Variants of uncertain significance may require additional family studies.
Risks & Considerations
- ●Minimal risk of slight pain or bruising at the injection site
- ●Remote risk of infection at the venipuncture site
- ●Finger prick (FTA card) may cause minor discomfort
Interfering Factors
- ●Poor DNA quality or quantity
- ●Maternal cell contamination
- ●Presence of variants of uncertain significance
- ●Mosaicism
Compare With Similar Tests
| Test | HEPACAM Gene Megalencephalic leukoencephalopathy with subcortical cysts 2A NGS Genetic Test | ||
|---|---|---|---|
| Comparison | HEPACAM Gene Megalencephalic leukoencephalopathy with subcortical cysts 2A NGS Genetic Test |
Frequently Asked Questions
What is the HEPACAM gene MLC2A NGS genetic test?
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