MLC1 Gene Mutation Analysis (Agrawal Mutation) Test
About MLC1 Gene Mutation Analysis (Agrawal Mutation) Test
| Field | Value |
|---|---|
| Also Known As | MLC1 Gene Sequencing, Agrawal Mutation Test, MLC Gene Mutation Test, Megalencephalic Leukoencephalopathy Genetic Test |
| Sample Type | Chorionic Villus (CVS), Amniotic Fluid, Peripheral Blood (EDTA), Cord Blood (EDTA) |
| Fasting Required | No |
| Report Time | 20 Days |
| Recommended For | Infants and children with suspected megalencephalic leukoencephalopathy with subcortical cysts (MLC), individuals from the Agrawal community with clinical features of MLC, and family members of affected individuals for carrier testing |
| Price | Starting at ₹7,200 |
What is an MLC1 Gene Mutation Analysis (Agrawal Mutation) Test?
The MLC1 gene mutation analysis (Agrawal mutation) test is a specialised genetic test that examines the MLC1 gene for mutations linked to a rare brain condition called megalencephalic leukoencephalopathy with subcortical cysts (MLC). MLC affects the white matter of the brain and is particularly prevalent in individuals from the Agrawal community in India. The test is performed using Sanger sequencing on one or more sample types, including chorionic villus (CVS), amniotic fluid, peripheral blood, or cord blood, depending on the clinical situation.
What Does an MLC1 Gene Mutation Analysis (Agrawal Mutation) Test Measure?
This test looks for changes (mutations) in the MLC1 gene, located on chromosome 22. The following specific variants are analysed:
| What is Analysed | Description |
|---|---|
| MLC1 Gene Variants | Mutations in this gene are the main cause of MLC, a disorder affecting the brain's white matter |
| Agrawal Founder Mutation (c.135dup) | A specific insertion of one base pair found in individuals from the Agrawal community; causes a frameshift leading to premature protein termination |
| Other Pathogenic Variants | Over 80 different disease-causing variants in the MLC1 gene have been reported globally |
Why is an MLC1 Gene Mutation Analysis (Agrawal Mutation) Test Done?
This test is ordered when a doctor suspects MLC based on clinical signs or family history. It helps confirm a diagnosis, identify carriers, and guide family planning decisions.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to order this test:
- Macrocephaly (an abnormally large head), which may be present at birth or develop in the first year of life
- Seizures or epilepsy in infants or young children
- Ataxia (poor balance and muscle coordination)
- Spasticity (unusual stiffness in the muscles)
- Delayed gross motor development (e.g., late walking or sitting)
- Gradual cognitive decline appearing later in childhood
Conditions This Test Can Help Detect
A doctor may order this test to investigate the following conditions:
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC), characterised by early macrocephaly and progressive neurological decline, including ataxia, spasticity, and epilepsy
- MLC occurring in individuals from the Agrawal community, where a common founder mutation has been identified
- Carrier status in family members, which is relevant for reproductive decision-making
How to Prepare and What to Expect
Preparation for this test varies depending on the sample type being collected. Your doctor will advise you on which sample is required.
Do You Need to Fast?
No fasting is required for this test. You may eat and drink normally before your appointment.
Practical Tips Before Your Test
The following steps will help ensure your sample is collected and processed correctly:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Inform the laboratory if the patient has recently had a blood transfusion; a wait of at least two weeks after a transfusion is recommended
- Genetic counselling is strongly recommended before and after testing to help you understand the results
- Wear comfortable, loose-fitting clothing that allows easy access to the arm for blood collection
- Carry all previous MRI reports, neurology assessments, or relevant medical documents to your appointment
Step-by-Step Procedure
The sample collection process depends on which sample type your doctor has requested.
Peripheral Blood or Cord Blood Collection:
- A healthcare professional cleans the inner arm (or another suitable site) with an antiseptic solution.
- A sterile needle is used to draw blood from a vein into an EDTA (lavender-top) tube.
- The sample is labelled with your details and sealed securely.
- The sample is stored at 2 to 8 degrees Celsius and transported to the laboratory.
- The laboratory extracts DNA and analyses it using Sanger sequencing.
- Results are prepared and delivered within 20 days.
Chorionic Villus (CVS) Collection:
- A gynaecologist or specialist performs the CVS procedure at a clinical facility.
- A small amount of chorionic villus tissue (30 mg) is collected from the placenta under ultrasound guidance.
- The sample is placed in a sterile container and labelled correctly.
- It is stored at 2-8°C and sent promptly to the laboratory.
- DNA is extracted and analysed using Sanger sequencing.
- Results are delivered within 20 days.
Amniotic Fluid Collection:
- An amniocentesis is performed by a specialist at a clinical facility under ultrasound guidance.
- A 20 ml sample of amniotic fluid is collected using a Falcon tube designated for this purpose.
- The sample is labelled, stored at 2 to 8 degrees Celsius, and dispatched to the laboratory.
- DNA is extracted, and the MLC1 gene is analysed by Sanger sequencing.
- Results are delivered within 20 days.
Factors That Can Affect Accuracy
Certain factors may affect the quality of the sample or the reliability of results:
- Poor sample quality or incorrect labelling at the time of collection
- A recent blood transfusion in the patient (for blood samples)
- Improper storage temperature during transport
- Delay in dispatching the sample to the laboratory
- Inadequate clinical history provided at the time of submission
Understanding Your MLC1 Gene Mutation Analysis (Agrawal Mutation) Test Results
Results from this test indicate whether a disease-causing mutation was found in the MLC1 gene. A doctor or genetic counsellor will explain what the findings mean for the patient and their family.
| Result | Interpretation |
|---|---|
| Mutation Not Detected | No pathogenic variant identified; does not fully rule out MLC, as other genes such as HEPACAM may be involved in approximately 20% of cases |
| Heterozygous (one copy of the mutation) | Carrier status; the individual carries one mutated copy but is typically unaffected |
| Homozygous or Compound Heterozygous (two copies) | Confirms MLC diagnosis; the individual is affected or at high risk |
Disclaimer: These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
How to Maintain Healthy Levels
Because this is a genetic test, the results reflect your inherited DNA and cannot be changed by lifestyle choices. The following steps are recommended after receiving results:
- If the result is positive, consult a paediatric neurologist and a genetic counsellor to discuss next steps for care.
- Family members (parents, siblings) should consider genetic counselling and carrier testing, particularly if they belong to the Agrawal community.
- Keep all genetic reports safely for future reference, as they may be relevant for family planning decisions.
Lupin Diagnostics MLC1 Gene Mutation Analysis (Agrawal Mutation) Test Price
The MLC1 gene mutation analysis test is priced starting at ₹7,200 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available due to the specialised sample-handling requirements.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 7200 |
| CHENNAI | 7200 |
| HYDERABAD | 7200 |
| KOLKATA | 7200 |
| NAVI MUMBAI | 7200 |
| PUNE | 7200 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to book your MLC1 gene mutation analysis (Agrawal mutation) test:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time for sample collection.
- Receive your report via email or WhatsApp within 20 days.
Frequently Asked Questions
The Agrawal mutation refers to a specific change in the MLC1 gene (c.135dup) that is common among individuals from the Agrawal community in India. It involves the insertion of one base pair, which disrupts normal protein production. This mutation is inherited from a common ancestor and is the most frequently identified variant in Indian MLC patients.
This test is recommended for infants or children with an enlarged head, white matter abnormalities on MRI, and other signs of MLC, particularly those from the Agrawal community. It is also advised for family members of a confirmed MLC patient to check for carrier status.
No, home collection is not available for this test. The samples require precise handling and specific collection procedures (such as CVS or amniocentesis) that can only be carried out at an appropriate clinical or diagnostic facility.
A negative result means no pathogenic variant was found in the MLC1 gene. However, this does not completely rule out MLC, as around 20% of cases involve mutations in another gene called HEPACAM. Your doctor may recommend further testing if MLC is still clinically suspected.
Yes, but only in specific circumstances. If a pathogenic MLC1 variant has already been identified in an affected family member, prenatal testing using chorionic villus (CVS) or amniotic fluid samples is possible. This is not a routine prenatal screening test.
Results for the MLC1 gene mutation analysis are typically available within 20 days from the date the sample is received and accepted by the laboratory. Your report will be sent to you via email or WhatsApp.
A positive result should be discussed with a paediatric neurologist and a genetic counsellor. They will guide you on clinical management, which focuses on monitoring and managing symptoms. Carrier testing for other family members and genetic counselling for future pregnancies are also recommended.
MLC1 Gene Mutation Analysis (Agrawal Mutation) Test
