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MLC1 Gene Megalencephalic leukoencephalopathy with subcortical cysts NGS Genetic Test

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MLC1 Gene Megalencephalic leukoencephalopathy with subcortical cysts NGS Genetic Test

Short Name: MLC1 NGS Genetic Test

Also known as: MLC1 Gene NGS Genetic Test, Megalencephalic leukoencephalopathy with subcortical cysts genetic test, MLC1 gene mutation test

MLC1 Gene Megalencephalic leukoencephalopathy with subcortical cysts 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 Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 detect pathogenic variants in the MLC1 gene and confirm a molecular diagnosis of Megalencephalic leukoencephalopathy with subcortical cysts. It also helps determine carrier status, provide recurrence risk information, and guide genetic counselling for affected families.

Test Code
4215
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A doctor’s referral and genetic counseling session are recommended before testing. A family pedigree chart will be recorded to determine the inheritance pattern and recurrence risk. No fasting or special preparation is required.

Method: Peripheral blood collection / FTA card spot

Step 2

Laboratory Analysis

A small volume of blood is drawn from a vein or collected as a single drop on an FTA card. The collection process takes approximately 5-10 minutes and is minimally invasive.

Step 3

Report Delivery

No special care is needed after sample collection. The individual can resume normal activities immediately. The sample should be sent to the laboratory for processing.

Timeline: Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:The doctor will review the individual's clinical history, neurological findings, MRI Brain features, and family history. A genetic counselling session is recommended before providing consent for testing.
2
During the Test:A blood or FTA card sample is collected and sent to the DNA sequencing laboratory. DNA is extracted and the MLC1 coding regions are enriched and sequenced using NGS technology.
3
After the Test:The laboratory will analyse the sequencing data, filter variants, and interpret results. The final report is shared after 3 to 4 weeks along with raw data files where applicable.

About This Test

Who Should Get This Test

To detect pathogenic variants in the MLC1 gene and confirm a molecular diagnosis of Megalencephalic leukoencephalopathy with subcortical cysts. It also helps determine carrier status, provide recurrence risk information, and guide genetic counselling for affected families.

How to Prepare

  • Collect blood in an EDTA vacutainer or spot on FTA card
  • Allow FTA card to dry at room temperature
  • Avoid hemolysed, clotted, or frozen whole blood samples
  • Label the sample with patient name, date of birth, and collection date

Doctor's Notes

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

"Genetic testing should be accompanied by a clinical genetics consultation for accurate variant interpretation and recurrence-risk counseling. This test helps confirm the molecular diagnosis of Megalencephalic leukoencephalopathy and guide family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 2 punches on FTA card
ContainerEDTA vacutainer / FTA card
Collection MethodPeripheral blood collection / FTA card spot

Sample Stability

Whole blood in EDTA: 24-48 hours at 2-8°C
FTA card: 3-6 months at room temperature
Extracted DNA: 1 year at -20°C
Sample Rejection Criteria:
  • Clotted or hemolysed blood sample
  • Insufficient sample volume
  • Improperly labeled sample
  • Sample stored at extreme temperatures

Understanding Your Results

This NGS test analyses the MLC1 gene for pathogenic variants associated with Megalencephalic leukoencephalopathy with subcortical cysts. Results should be interpreted by a qualified clinical geneticist in the context of the patient's clinical presentation, imaging findings, family history, and pedigree analysis.
📊

Positive / Pathogenic variant detected

A pathogenic or likely pathogenic variant is identified in MLC1, confirming the molecular diagnosis of MLC.

Recommendation: Clinical correlation and family segregation testing are recommended.

📊

Negative / No pathogenic variant detected

No pathogenic variants were found in the MLC1 gene. If clinical suspicion is high, other genes associated with leukoencephalopathy should be considered.

Recommendation: Consider HEPACAM gene testing or a larger leukodystrophy NGS panel.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was identified but its disease association is not yet known. It cannot be classified as pathogenic or benign.

Recommendation: Family studies, segregation analysis, and further clinical correlation are required.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, neurologist, or paediatrician if you notice unexplained macrocephaly, developmental delay, seizures, or loss of milestones in a child. Genetic testing and counselling are advised for families with a known MLC1 gene variant.

Limitations

  • ⚠NGS may not detect large structural rearrangements or deep intronic variants
  • ⚠Non-coding regulatory variants and certain repeat expansions may be missed
  • ⚠Variants of uncertain significance (VUS) may require family segregation studies and additional functional analysis
  • ⚠This test is specific to MLC1; if negative, other leukodystrophy genes may need evaluation

Risks & Considerations

  • ●No significant physical risk; only minimal discomfort during blood collection
  • ●Potential psychological impact of receiving a genetic diagnosis
  • ●Possible identification of carrier status or incidental findings

Interfering Factors

  • ●Insufficient quantity or quality of DNA
  • ●Contamination during sample collection or handling
  • ●Low sequencing coverage in GC-rich regions
  • ●Recent blood transfusion can affect blood cell-based DNA analysis

Compare With Similar Tests

TestMLC1 Gene Megalencephalic leukoencephalopathy with subcortical cysts NGS Genetic Test
ComparisonMLC1 Gene Megalencephalic leukoencephalopathy with subcortical cysts NGS Genetic Test

Frequently Asked Questions

What is the MLC1 NGS Genetic Test?
The MLC1 NGS Genetic Test is a next-generation sequencing test that analyses the MLC1 gene for mutations associated with Megalencephalic leukoencephalopathy with subcortical cysts (MLC).
Which disease does this test detect?
This test detects pathogenic variants in the MLC1 gene, which cause Megalencephalic leukoencephalopathy with subcortical cysts, a rare inherited brain white matter disorder.
Why is NGS preferred for MLC diagnosis?
NGS can sequence large portions of the MLC1 gene quickly and accurately, detecting point mutations and small insertions/deletions that may be missed by targeted Sanger sequencing.
What sample is required for this test?
A blood sample in an EDTA vacutainer, extracted DNA, or one drop of blood spotted on an FTA card can be used for the MLC1 NGS genetic test.
How much does the MLC1 gene NGS genetic test cost?
The cost is Rs 20000.0, which includes home sample collection, genetic counselling, clinical interpretation, and raw data files.
How long will the report take?
The test report is generally available within 3 to 4 weeks after the sample reaches the laboratory.
Do I need to fast before giving the sample?
No, fasting is not required for this genetic test. It can be done at any time of the day.
Is genetic counselling mandatory before testing?
Genetic counselling is strongly recommended before testing. A counselling session helps draw a family pedigree and explains the inheritance, benefits, risks, and limitations of genetic testing.
Can prenatal testing be done for MLC?
Yes, if a pathogenic MLC1 variant is identified in a family, prenatal testing and preimplantation genetic testing can be discussed with the clinical genetics team.
Why does DNA Labs India share raw data files?
DNA Labs India is committed to transparency. We provide raw FASTQ and VCF files along with the clinical report, allowing secondary analysis, third-party review, and future re-interpretation.
What happens if the test result is negative?
A negative result means no pathogenic variant was identified in MLC1. If clinical suspicion remains high, other leukodystrophy genes such as HEPACAM should be considered or whole exome sequencing may be recommended.
What is a variant of uncertain significance?
A variant of uncertain significance is a genetic change where it is not yet clear whether it causes disease. Family segregation studies and additional clinical evidence are needed before it can be classified as pathogenic or benign.
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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