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Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel Test

About Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel Test

Field	Value
Also Known As	Leigh Syndrome Gene Panel, Mitochondrial Encephalopathy Gene Panel, Leigh Disease NGS Panel, Subacute Necrotising Encephalomyelopathy Gene Panel
Sample Type	Chorionic villus (CVS), amniotic fluid, or peripheral blood (EDTA tube)
Fasting Required	No
Report Time	35 days
Recommended For	Infants, children, and adults with suspected Leigh syndrome or mitochondrial encephalopathy; males and females
Price	Starting at ₹21,600

What is a Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel Test?

The Leigh syndrome & mitochondrial encephalopathy gene panel test is a specialised genetic test that looks for mutations in genes linked to severe mitochondrial brain disorders. It is ordered when a doctor suspects Leigh syndrome or a related mitochondrial condition based on a patient's symptoms and clinical history. The test uses Next Generation Sequencing (NGS), a method that reads genetic code in great detail, to analyse both mitochondrial and nuclear genes. It may also be used for prenatal evaluation in families with a known genetic variant.

What Does a Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel Test Measure?

This panel examines the mitochondrial genome alongside approximately 108 nuclear genes associated with mitochondrial dysfunction. The genes are grouped by the part of the energy-producing pathway they affect.

The key gene groups analysed include the following:

Gene Category	Examples
Complex I genes	NDUFA subunits, NDUFS subunits, NDUFV1, NDUFAF assembly factors
Complex IV genes	SURF1, COX10, COX15, SCO2, LRPPRC, TACO1, NDUFA4
Complex V genes	MTATP6 (mitochondrial ATP synthase subunit 6)
Mitochondrial DNA maintenance genes	FBXL4, POLG, SUCLA2, SUCLG1
Mitochondrial translation genes	MTTI, MTTK, MTTL1, MTFMT, GTPBP3, TRMU, EARS2, FARS2
Other associated genes	HIBCH, ECHS1, SERAC1, AIFM1, PDHA1, PDHB, SLC19A3, SDHA

Why is a Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel Test Done?

A doctor may request the Leigh syndrome & mitochondrial encephalopathy gene panel test when a patient shows signs that point to a mitochondrial disorder. Below are the common reasons for ordering this test.

Common Symptoms That May Require This Test

The following symptoms may prompt a doctor to recommend this test:

Weak muscle tone (hypotonia) and poor physical development
Failure to thrive, meaning the child is not growing or gaining weight as expected
Vomiting, loss of appetite, and difficulty swallowing
Involuntary muscle contractions (dystonia) and problems with movement and balance (ataxia)
Seizures and continuous, unexplained crying in infants
Rapid involuntary eye movements (nystagmus) or weakness of the eye muscles
Breathing difficulties and degeneration of the optic nerve

Conditions This Test Can Help Detect

This test can help identify a range of mitochondrial disorders, including:

Leigh syndrome, a severe early-onset neurological disorder affecting the brain and nervous system
Mitochondrial encephalopathy, a group of disorders involving brain damage due to energy failure in cells
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes)
MERRF (myoclonic epilepsy with ragged red fibres)
Leber optic atrophy and mitochondrial cardiomyopathy
Mitochondrial complex deficiencies (Complex I, III, IV, and V)
POLG-related disorders and inborn mitochondrial myopathy

How to Prepare and What to Expect

No special preparation is needed for the Leigh syndrome & mitochondrial encephalopathy gene panel test. The sections below explain what to bring, what to expect during collection, and what can influence the result.

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

Keep the following points in mind before your appointment:

Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
Carry a valid government-issued photo ID and a doctor's prescription
Ensure the patient (or the child being tested) is well hydrated before the blood draw
Inform the laboratory if the patient has had a recent blood transfusion, as this can affect the result
If the sample being collected is CVS or amniotic fluid, the procedure will be arranged and supervised by your treating doctor

Step-by-Step Procedure

This test accepts three sample types. The appropriate sample is chosen based on the clinical situation.

Peripheral Blood Collection:

A trained phlebotomist cleans the skin over a vein, usually in the arm.
A small blood sample (3 ml) is drawn into an EDTA tube (lavender top).
The tube is labelled with the patient's details and collection date.
The sample is stored at 2 to 8 degrees Celsius and dispatched to the laboratory.

Chorionic Villus (CVS) Collection (for prenatal testing):

A gynaecologist or foetal medicine specialist performs the CVS procedure under ultrasound guidance.
A small tissue sample (30 mg) from the placenta is collected using a fine needle or catheter.
The sample is placed in a sterile container (white) and labelled with patient and collection details.
It is stored under refrigeration (2 to 8 degrees Celsius) and sent to the lab promptly.

Amniotic Fluid Collection (for prenatal testing):

A doctor performs amniocentesis under ultrasound guidance.
A sample of amniotic fluid (20 ml) is drawn using a fine needle and collected in a Falcon tube.
The sample is labelled, stored refrigerated, and dispatched to the laboratory without delay.

In all cases, the sample undergoes NGS analysis at the laboratory, with a report issued within 35 days.

Factors That Can Affect Accuracy

The following factors may influence the accuracy of the test result:

Poor sample quality or degraded DNA
A recent blood transfusion altered the DNA profile in a blood sample
Heteroplasmy (when both normal and mutated mitochondrial DNA coexist in varying proportions in different tissues), which may lead to different results from different sample types
Rare disease-causing variants located in genes not included in the panel
DNA extraction method used at the laboratory

Understanding Your Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel Test Results

Results from the Leigh syndrome & mitochondrial encephalopathy gene panel test require careful interpretation by a qualified doctor, ideally a geneticist or neurologist with experience in mitochondrial disorders. The table below outlines the possible result types.

Result Type	Interpretation
No pathogenic variants detected	No disease-causing mutations found in the genes analysed
Pathogenic or likely pathogenic variant detected	A mutation associated with Leigh syndrome or mitochondrial encephalopathy has been identified
Variant of uncertain significance (VUS)	A genetic change was found, but its role in disease is not yet confirmed; further studies may be needed
Heteroplasmy detected (for mitochondrial DNA variants)	Both normal and mutated mitochondrial DNA are present; higher levels of mutated DNA generally relate to more severe disease

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.

Results During Special Conditions

Mitochondrial DNA variants may be heteroplasmic, meaning the proportion of mutated DNA can differ across tissue types. A blood sample may show a lower level of heteroplasmy than a muscle tissue sample, which can make interpretation more complex. Symptoms of Leigh syndrome typically appear between three and 12 months of age, often triggered by a viral illness, vaccination, surgery, or prolonged fasting.

How to Maintain Healthy Levels

Because this is a diagnostic genetic test for an inherited condition, lifestyle changes cannot alter the underlying genetic variants. However, some steps may support the family after the result is received:

Seek early genetic counselling to understand the diagnosis and its implications for other family members
Ask your doctor about reproductive options, such as prenatal testing or preimplantation genetic testing, if planning a future pregnancy
Connect with a paediatric neurologist or mitochondrial disease specialist for guidance on supportive care options

Lupin Diagnostics Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel Test Price

The Leigh syndrome & mitochondrial encephalopathy gene panel test is priced starting at ₹21,600 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre, as home collection is not available for this specialised genetic test.

City	Approximate Price (₹)
BHOPAL	21600
CHENNAI	21600
HYDERABAD	21600
KOLKATA	21600
NAVI MUMBAI	21600
PUNE	21600

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 the Leigh syndrome & mitochondrial encephalopathy gene panel test at Lupin Diagnostics:

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 the stipulated turnaround time.

Frequently Asked Questions

Leigh syndrome is a rare, serious genetic disorder that affects the central nervous system. It usually becomes apparent in the first year of life and is marked by a progressive loss of movement and mental abilities. It is caused by mutations in mitochondrial or nuclear genes that disrupt the body's ability to produce energy in cells.

Leigh syndrome can be inherited in more than one way. Most cases follow an autosomal recessive pattern, where a child inherits a faulty copy of the gene from each parent. In approximately 20% of cases, the condition follows a mitochondrial inheritance pattern, meaning it is passed through the mother to her children.

The test can be performed on peripheral blood (3 ml in an EDTA tube), chorionic villus tissue (30 mg, for prenatal testing), or amniotic fluid (20 ml, for prenatal testing). Your doctor will advise which sample type is appropriate based on your clinical situation.

Results are typically available within 35 days. The extended turnaround time reflects the complexity of NGS analysis and the careful interpretation required for each variant identified.

A negative result means no disease-causing variants were found in the genes covered by the panel. However, it does not completely rule out a mitochondrial disorder, as the causative mutation may be in a gene not included in the panel. Your doctor will consider the result alongside your clinical picture and other investigations.

A positive result confirms that a disease-causing genetic mutation has been identified. This helps your doctor establish a diagnosis, guide supportive care, and assess the risk for other family members. A positive finding is best discussed in detail with a geneticist or neurologist experienced in mitochondrial disorders.

This is generally a one-time diagnostic test performed to identify the underlying genetic cause of the disease. Once a diagnosis is confirmed, ongoing monitoring of disease progression uses other tools such as MRI imaging, lactate levels, and clinical assessment rather than repeat genetic testing.