Nx Gen Sequencing: Megalencephalic Leukoencephalopathy with Subcortical Cysts Test
Short Name: MLC Genetic Test
Also known as: MLC, Megalencephalic Leukoencephalopathy
Nx Gen Sequencing: Megalencephalic Leukoencephalopathy with Subcortical Cysts Test test available at DNA Labs India for ₹23,400. Uses NGS, Sanger sequencing on Whole blood samples. Results in 40 working days from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of Nx Gen Sequencing for MLC is to identify genetic mutations in the MLC1 and HEPACAM genes that cause Megalencephalic Leukoencephalopathy with Subcortical Cysts. This test aims to provide a definitive diagnosis, differentiate MLC from other neurological conditions, guide treatment strategies, and offer genetic counseling for families. It helps in understanding the genetic basis of symptoms such as macrocephaly, seizures, and developmental delays, enabling better disease management and informed decision-making.
- Test Code
- 1346
- Price
- ₹23,400
- Sample Type
- Whole blood
- Result Time
- 40 working days from sample receipt
- Fasting Required
- No
- Method
- NGS, Sanger sequencing
Sample Collection
Complete and sign the Whole Exome Sequencing Consent Form (Form 37). No specific fasting required, but consult with your healthcare provider for any medication adjustments.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm using standard venipuncture procedure. Inform the technician of any allergies or bleeding disorders.
Report Delivery
Apply pressure to the puncture site with a cotton ball to stop bleeding. Avoid strenuous activity with the arm for a few hours. Results will be available after 40 working days.
Timeline: 40 working days from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of Nx Gen Sequencing for MLC is to identify genetic mutations in the MLC1 and HEPACAM genes that cause Megalencephalic Leukoencephalopathy with Subcortical Cysts. This test aims to provide a definitive diagnosis, differentiate MLC from other neurological conditions, guide treatment strategies, and offer genetic counseling for families. It helps in understanding the genetic basis of symptoms such as macrocephaly, seizures, and developmental delays, enabling better disease management and informed decision-making.
How to Prepare
- Collect 10 mL (5 mL min.) whole blood in 2 Lavender Top (EDTA) tubes.
- Ship the sample refrigerated; do not freeze.
- Ensure the consent form (Form 37) is duly filled and submitted with the sample.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of MLC through Nx Gen Sequencing can aid in symptom management, family counseling, and accessing appropriate care resources."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Improper container (non-EDTA tubes)
- Missing or incomplete consent form
- Sample contaminated or hemolyzed
Understanding Your Results
Confirms diagnosis of MLC. Subtype identified based on gene affected.
Action: Consult a geneticist for management, family screening, and genetic counseling.
Result type: Pathogenic variant detected in MLC1 or HEPACAM
MLC is less likely. Consider other neurological disorders or repeat testing if clinical suspicion remains.
Action: Follow up with neurologist for further evaluation.
Result type: No pathogenic variant detected
Genetic change found but significance unclear. May require further analysis or family studies.
Action: Genetic counseling to discuss implications and potential reclassification.
Result type: Variant of uncertain significance (VUS)
Consult a doctor if you or a loved one exhibits symptoms such as macrocephaly, seizures, developmental delays, movement problems, or other neurological signs. Early evaluation and genetic testing can aid in diagnosis and management.
Limitations
- ⚠May not detect all possible genetic variants
- ⚠Results require interpretation by genetic experts
- ⚠False negatives possible in rare cases
Risks & Considerations
- ●Minor bruising or pain at the puncture site
- ●Rare risk of infection
- ●Fainting or dizziness in some individuals
Interfering Factors
- ●Poor sample quality
- ●Contamination during collection
- ●Inadequate sample volume
Frequently Asked Questions
What is Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC)?
What are the common symptoms of MLC?
How is MLC diagnosed?
What is Nx Gen Sequencing?
What is the cost of this test?
Is home sample collection available?
How long does it take to get results?
What genes are tested in this panel?
Who should consider getting this test?
Is genetic counseling included in the test cost?
How accurate is this genetic test?
What should I do after receiving test results?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.