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Cystic megalencephaly (MLC1) gene analysis
₹ 18500
Cystic Megalencephaly (MLC1) Gene Analysis Test
₹ 18500 ₹ 18500

Cystic Megalencephaly (MLC1) Gene Analysis Test

Sample Type 51+ booked in last 3 days
Precaution
Sample Type
Swab
Precaution
Fasting
Yes
Precaution
Report
Within 4 Weeks

Cystic megalencephaly (MLC1) gene analysis Price

₹ 18500

Brief Details

Preparation
No special preparation required
Also Known As
Cystic megalencephaly gene analysis
Fasting
Fasting not required
Reporting Time
After 4 weeks
Purpose
To identify genetic mutations causing cystic megalencephaly, also known as megalencephalic leukoencephalopathy with subcortical cysts

What is the Cystic Megalencephaly (MLC1) Gene Analysis Test?

The Cystic Megalencephaly (MLC1) Gene Analysis Test is a genetic blood test used to diagnose cystic megalencephaly, a rare inherited neurological disorder characterised by an abnormally large brain and progressive white matter changes.

This condition is caused by mutations in the MLC1 gene, which plays a role in maintaining normal brain white matter structure. The test uses next generation sequencing technology to detect disease causing genetic changes, helping confirm diagnosis, guide long term management, and support genetic counselling. 

What Does the Cystic Megalencephaly (MLC1) Gene Analysis Test Measure?

This genetic test looks for disease causing changes in the MLC1 gene:

  • Detects pathogenic variants responsible for cystic megalencephaly
  • Helps confirm the diagnosis of megalencephalic leukoencephalopathy
  • Supports early diagnosis in infants and children with enlarged head size
  • Aids genetic counselling and family screening
  • Assists clinicians in prognosis assessment and supportive care planning

Cystic Megalencephaly (MLC1) Gene Analysis Test: Who Needs It and Why It’s Done

What Symptoms May Call for a Cystic Megalencephaly (MLC1) Gene Analysis Test?

Doctors may recommend this test if a child shows:

  • Abnormally large head size developing in infancy
  • Delayed motor development or coordination difficulties
  • Seizures or abnormal muscle tone
  • Progressive neurological symptoms over time
  • MRI findings suggestive of white matter abnormalities with cysts

Who Should Get a Cystic Megalencephaly (MLC1) Gene Analysis Test?

This test may be advised for:

  • Infants or children with suspected leukodystrophy
  • Patients with progressive neurological deterioration of unclear cause
  • Individuals with characteristic MRI findings
  • Families with a known history of cystic megalencephaly
  • Couples seeking genetic confirmation for future pregnancy planning

Why is the Cystic Megalencephaly (MLC1) Gene Analysis Test Done?

The test helps confirm the genetic cause of cystic megalencephaly, allowing accurate diagnosis, appropriate supportive care, and informed genetic counselling for affected families.

Cystic Megalencephaly (MLC1) Gene Analysis Test Booking & Reports – Metropolis Healthcare

How to Book the Cystic Megalencephaly (MLC1) Gene Analysis Test and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Cystic Megalencephaly (MLC1) Gene Analysis Test, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection.
  2. Safe Home Sample Collection
    Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols.
  3. Sample Tracking Updates
    You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform.
  4. Accurate Laboratory Testing
    Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology.
  5. Quick and Easy Reports
    Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.

Is Home Sample Collection for Cystic Megalencephaly (MLC1) Gene Analysis Test Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Cystic Megalencephaly (MLC1) Gene Analysis Test. This service saves you time, reduces the need for travel, and ensures professional sample handling while maintaining strict quality standards.

In How Much Time Will I Get the Cystic Megalencephaly (MLC1) Gene Analysis Test Report?

Reports are usually available after 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.

Where Can I See or Get Cystic Megalencephaly (MLC1) Gene Analysis Test Results?

You can access your test reports through the Metropolis Healthcare website or mobile app using your login credentials. Reports are also sent via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.

Interpreting Cystic Megalencephaly (MLC1) Gene Analysis Test Results

What Your Cystic Megalencephaly (MLC1) Gene Analysis Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
MLC1 gene No disease causing variant detected Confirmed cystic megalencephaly or related leukodystrophy Symptoms may be due to other leukodystrophies or variants not detected by this analysis

Understanding Abnormal Cystic Megalencephaly (MLC1) Gene Analysis Results

Finding What It May Indicate
Pathogenic MLC1 variant Megalencephalic leukoencephalopathy with subcortical cysts
No pathogenic variant Alternative genetic or acquired white matter disorder

How Should You Prepare for a Cystic Megalencephaly (MLC1) Gene Analysis Test?

This genetic test requires minimal preparation from your side:

  • No fasting required: You can eat and drink normally before sample collection
  • Normal hydration: Maintain your usual fluid intake
  • Medication disclosure: Inform your doctor about any medicines or supplements
  • Share clinical history: Provide relevant neurological findings and family history
  • Consent and documentation: Ensure the test requisition form and clinical details are completed

How Is a Cystic Megalencephaly (MLC1) Gene Analysis Test Done? (Step-by-Step Procedure)

The test is performed using a standard blood collection process:

  • Preparation: A tourniquet is tied around your arm to make veins more visible
  • Cleaning: The puncture site is cleaned with antiseptic
  • Sample Collection: A sterile needle is used to draw about 3 to 5 ml of blood into an EDTA vacutainer
  • Completion: The needle is removed, and a bandage is applied
  • Processing: The sample undergoes next generation sequencing to analyse the MLC1 gene

Conditions That May Affect Cystic Megalencephaly (MLC1) Gene Analysis Test Accuracy

Certain patient related factors may influence test interpretation:

  • Recent blood transfusion, which may affect genetic analysis
  • Incomplete or inaccurate clinical or family history
  • Presence of mosaic genetic changes requiring clinical correlation

Diseases That the Cystic Megalencephaly (MLC1) Gene Analysis Test Can Help Detect

  • Cystic megalencephaly
  • Megalencephalic leukoencephalopathy with subcortical cysts
  • Inherited leukodystrophies

References

  1. Leegwater P.A.J., Yuan B.Q., van der Steen J., et al. (2001). Mutations of MLC1 cause megalencephalic leukoencephalopathy with subcortical cysts. Nature Genetics, 29(3), 267–271. PMID: 11687797
  2. van der Knaap M.S., Barth P.G., Stroink H., et al. (1995). Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Annals of Neurology, 37(3), 324–334. PMID: 7695227
  3. Hamilton E.M.C., van der Lei H.D.W., Vermeulen G., et al. (2018). Megalencephalic leukoencephalopathy with subcortical cysts: Characterisation of disease variants. Journal of Neurology, Neurosurgery and Psychiatry, 89(6), 613–621. PMID: 29449435

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We're satisfying our customers every day since 1980.

Morning given the samples in Ayanavaram branch got the report by 12.30pm it's fast and efficient delivery by mail and want to tell about the staff they are very professional and friendly definitely I will recommend my friends and family to metropolis labs

Prabhu Gopalakrishnan. 5

The Home Service was excellent. Medical Technician took samples at 7:00am and returned at 9:30 after breakfast to take further samples. The results were sent by email at 6pm. The whole experience was excellent, professional and well organised. Will certainly recommend the home service for convenience

Chris Bessell 5

Excellent service - I was able to request services late at night (9pm) and the technician was at my door at 7:30am the next morning. The services were highly affordable and convenient. I live in the US and the US could learn a lot from Metropolis!!!

Sharmila Vaishnav. 5

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

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Metropolis has a team of 200 senior pathologists and over 2000 technicians delivering diagnostic solutions in the areas of routine, semi specialty and super specialty domains like Oncology, Neurology, Gynaecology, Nephrology and many more.

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Metropolis Healthcare is a leading diagnostic service provider in India. We are a team of dedicated professionals committed to ensuring you and your family receive the most accurate and timely healthcare solutions. We believe in making health care accessible, affordable and evidence-based. Our expert panel are equipped with the latest technology and manned by a certified team of over 4000+ technicians.

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