Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
Short Name: MLC Gene Hotspot Mutation Test
Also known as: MLC, Van der Knaap Disease, Megalencephalic Leukoencephalopathy
Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test test available at DNA Labs India for ₹7,500. Uses PCR, Sequencing on Whole blood samples. Results in 5 business days from sample receipt at laboratory.. 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
To detect pathogenic mutations in the MLC1 gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts, aiding in diagnosis and genetic counseling.
- Test Code
- 1221
- Price
- ₹7,500
- Sample Type
- Whole blood
- Result Time
- 5 business days from sample receipt at laboratory.
- Fasting Required
- No
- Method
- PCR, Sequencing
Sample Collection
Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture into an EDTA tube.
Report Delivery
Ship refrigerated; do not freeze. Ensure timely dispatch to laboratory.
Timeline: 5 business days from sample receipt at laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic mutations in the MLC1 gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts, aiding in diagnosis and genetic counseling.
How to Prepare
- Collect 4 mL whole blood in an EDTA tube.
- Ship refrigerated within 6 hours at room temperature or 1 week refrigerated.
- Complete and attach Form 20 with clinical details.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for confirming diagnosis of MLC, guiding treatment, and enabling genetic counseling for families at risk."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient volume (<2 mL)
- Missing or incomplete Form 20
- Improperly labeled tube
Understanding Your Results
Negative
No pathogenic mutations detected in the MLC1 gene. MLC is less likely, but clinical correlation with symptoms and imaging is advised.
Action: Consult neurologist for further evaluation if symptoms persist.
Positive
Pathogenic mutation(s) found in the MLC1 gene, confirming diagnosis of MLC.
Action: Initiate appropriate management, genetic counseling, and family screening.
If experiencing symptoms such as developmental delays, seizures, or movement disorders, or for genetic counseling regarding family history of MLC.
Limitations
- ⚠Does not detect all possible mutations in MLC1 or GLIALCAM genes
- ⚠Requires clinical correlation with symptoms and imaging
- ⚠Negative result does not rule out MLC entirely
Risks & Considerations
- ●Minor bruising or infection at puncture site
- ●Rare allergic reaction to antiseptic
Interfering Factors
- ●Contaminated sample
- ●Improper storage or shipping
- ●Degraded DNA due to hemolysis or delay
Compare With Similar Tests
| Test | Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test | GLIALCAM Gene Test | Leukodystrophy Gene Panel |
|---|---|---|---|
| Comparison | Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test |
Frequently Asked Questions
What is Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC)?
Which genes are tested in the MLC Gene Hotspot Mutation Test?
What are the common symptoms of MLC?
How is MLC diagnosed?
What sample is required for the test?
How long does it take to get the test results?
What is the cost of the MLC Gene Hotspot Mutation Test?
Is home sample collection available across India?
What should I do if the test result is positive?
Are there any risks associated with the test?
Can the test detect all MLC mutations?
How can I book the MLC Gene Hotspot Mutation Test?
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