Mitochondrial Genome Sequencing Test: Booking, Price, and Results
About Mitochondrial Genome Sequencing Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | mtDNA sequencing, Mitochondrial DNA sequencing, mtGenome sequencing, Whole mitochondrial genome analysis |
| Sample Type | Peripheral blood (EDTA), muscle tissue, buccal swab/saliva, urine epithelial cells, CVS, amniotic fluid, or other clinically indicated tissue samples. |
| Fasting Required | No fasting required |
| Report Time | 25 days |
| Recommended For | All ages and genders; individuals with suspected mitochondrial disease |
| Price | Starting at ₹18,000 |
What is a Mitochondrial Genome Sequencing Test?
The mitochondrial genome sequencing test analyses the complete DNA sequence of the mitochondria, the energy-producing structures found in almost every cell of the body. It uses next-generation sequencing (NGS) to detect genetic changes that may cause inherited mitochondrial disorders. Doctors typically prescribe this test when a patient shows symptoms that suggest a mitochondrial condition. It is also known as mtDNA sequencing or whole mitochondrial genome analysis.
What Does a Mitochondrial Genome Sequencing Test Measure?
This test examines the entire mitochondrial genome, which contains 13 protein-coding genes, 22 transfer RNA genes, and 2 ribosomal RNA genes. The following genetic features are assessed:
| Component | What it Tells Us |
|---|---|
| Point mutations (single-nucleotide variants) | Changes in individual DNA letters that may cause disease |
| Small insertions and deletions (indels) | Small additions or removals of genetic material |
| Large deletions | Bigger missing sections of the mitochondrial genome |
| Heteroplasmy levels | The proportion of mutated versus normal mitochondrial DNA in cells |
| Mitochondrial haplogroup | The patient's maternal ancestral lineage marker |
Heteroplasmy refers to the presence of both normal and mutated mitochondrial DNA within the same cell. The severity of a mitochondrial disorder is often linked to the percentage of mutation.
Why is a Mitochondrial Genome Sequencing Test Done?
A doctor may recommend this test based on a range of neurological, muscular, or metabolic symptoms. A detailed clinical history is required when submitting the sample.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to request this test:
- Drooping eyelids (ptosis) or paralysis of the eye muscles
- Muscle weakness, particularly near the shoulders and hips
- Unexplained exercise intolerance or fatigue
- Stroke-like episodes or seizures
- Hearing loss (sensorineural type)
- Poor coordination (ataxia) or involuntary movements
- Heart muscle disease (cardiomyopathy) alongside neurological signs
- Developmental delay or regression in children
- Failure to thrive or feeding difficulties in infants
- Recurrent unexplained metabolic crises or lactic acidosis
- Family history of mitochondrial or inherited neurological disorders
- Abnormal prenatal ultrasound findings suggestive of neuromuscular or metabolic disorders
- Previous pregnancy or child affected by a suspected mitochondrial disorder
Conditions This Test Can Help Detect
This test can help identify a range of inherited mitochondrial conditions, including:
- MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes)
- MERRF (Myoclonic Epilepsy with Ragged Red Fibres)
- Leber Hereditary Optic Neuropathy (LHON), which can cause sudden vision loss
- Kearns-Sayre Syndrome (KSS)
- NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa)
- Leigh syndrome, a severe neurological disorder
- Chronic Progressive External Ophthalmoplegia (CPEO)
- Pearson syndrome
- Maternally Inherited Diabetes and Deafness (MIDD)
- Aminoglycoside-induced hearing loss
How to Prepare and What to Expect
Preparation for this test is straightforward, but providing accurate clinical information is essential for correct interpretation.
Do You Need to Fast?
No fasting is required before the mitochondrial genome sequencing test. You may eat and drink normally on the day of sample collection.
Practical Tips Before Your Test
A few steps will help ensure accurate results and a smooth process:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test.
- Inform your doctor if you have had a recent blood transfusion or bone marrow transplant, as this can affect results.
- Share any relevant family history of neurological or muscular disorders with the treating doctor.
- Genetic counselling before testing is advisable to understand what the results may mean for you and your family.
Step-by-Step Procedure
This test can be performed using different sample types depending on the clinical indication. Here is what to expect:
- A suitable sample, such as peripheral blood, muscle tissue, buccal swab/saliva, urine epithelial cells, CVS, amniotic fluid, or another clinically indicated tissue specimen, is collected by a trained healthcare professional.
- Specialised prenatal samples such as CVS or amniotic fluid are collected at an authorised healthcare facility using established clinical procedures.
- The sample is placed in an appropriate sterile container and stored under recommended conditions to preserve DNA quality.
- The sample is transported to the laboratory, where mitochondrial DNA is extracted from the specimen.
- Long-range PCR amplification is carried out, followed by high-throughput NGS to sequence the entire mitochondrial genome.
- Bioinformatics analysis identifies genetic variants and compares them against reference databases.
- A detailed report is prepared and delivered within approximately 25 days.
Factors That Can Affect Accuracy
The following factors may influence the reliability of the results:
- Recent blood transfusion or bone marrow transplant (can introduce donor mitochondrial DNA).
- Tissue-specific heteroplasmy, where mutation levels differ between body tissues.
- Poor DNA quality or insufficient sample quantity.
- Sample mislabelling or improper storage during transport.
Understanding Your Mitochondrial Genome Sequencing Test Results
Results from the mitochondrial DNA sequencing test are qualitative, meaning they report the presence or absence of genetic variants rather than a numerical value. The table below summarises the possible outcomes:
| Finding | Interpretation |
|---|---|
| No pathogenic variants detected | Negative result; a mitochondrial DNA disorder is unlikely |
| Pathogenic or likely pathogenic variant detected | Positive result indicating a disease-causing mutation is present |
| Variant of uncertain significance (VUS) | Further evaluation, family studies, or repeat testing may be needed |
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
Certain situations may affect how results are interpreted:
- Low Heteroplasmy Levels: A negative result from a CVS or blood sample does not completely rule out mitochondrial disease. Some mutations are present at very low levels in certain tissues or may be detectable only in skeletal muscle or liver tissue. If clinical suspicion remains high despite a negative result, your doctor may recommend testing a different tissue type.
- Transfusions or Transplants: Recent blood transfusions or bone marrow transplantation can introduce donor mitochondrial DNA into the sample, which may alter findings. Always disclose this history before testing.
How to Maintain Healthy Levels
While genetic variants cannot be changed, general lifestyle habits may support mitochondrial health:
- Follow a balanced diet that includes antioxidant-rich foods and adequate B vitamins.
- Avoid smoking and excessive alcohol consumption, as both place additional energy demands on the mitochondria.
- Engage in regular, moderate physical activity as tolerated and as advised by your doctor.
Lupin Diagnostics Mitochondrial Genome Sequencing Test Price and Home Collection
The mitochondrial genome sequencing test cost at Lupin Diagnostics starts at ₹18,000. Home collection may be available for eligible sample types such as peripheral blood or saliva, while specialised samples such as muscle biopsy, CVS, or amniotic fluid require collection at an authorised healthcare facility.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 18000 |
| CHENNAI | 18000 |
| HYDERABAD | 18000 |
| KOLKATA | 18000 |
| NAVI MUMBAI | 18000 |
| PUNE | 18000 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
The mitochondrial genome sequencing test online booking process at Lupin Diagnostics is simple:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Depending on the required sample type, eligible samples such as peripheral blood or saliva may be collected through home collection, while specialised samples such as muscle biopsy, CVS, or amniotic fluid must be collected at an authorised healthcare facility.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Lupin Diagnostics offers home collection for the mitochondrial genome sequencing test, such as peripheral blood or saliva, across several cities in India. Specialised samples such as muscle biopsy, CVS, or amniotic fluid must be collected at an authorised healthcare facility. All samples are processed in NABL-accredited laboratories by experienced specialists, and digital reports are shared via email or WhatsApp once ready.
Frequently Asked Questions
The mitochondrial genome sequencing test is used to detect genetic mutations in the mitochondrial DNA that cause inherited mitochondrial disorders. It helps doctors confirm a diagnosis when a patient presents with unexplained neurological, muscular, or metabolic symptoms pointing to a mitochondrial condition.
This test is recommended for individuals who show symptoms consistent with a mitochondrial disorder, such as muscle weakness, stroke-like episodes, hearing loss, or poor coordination. It is also considered for family members of a person who has already been diagnosed with a mitochondrial disease.
Yes. Clinical history is required when submitting the sample for the mitochondrial DNA sequencing test. Bring a detailed record of your symptoms, previous investigations, and family medical history to your appointment or home collection.
Blood sample collection procedure usually takes only a few minutes, although specialised sample collection procedures such as muscle biopsy, CVS, or amniotic fluid collection may take longer and require a visit to a healthcare facility. The laboratory analysis using next-generation sequencing is time-intensive, and results are typically delivered within 25 days from sample receipt.
A VUS means a genetic change was found in the mitochondrial DNA, but current scientific knowledge is insufficient to confirm whether it causes disease. Your doctor or genetic counsellor will advise on next steps, which may include family testing or periodic re-evaluation as research advances.
Not entirely. A negative result means no known pathogenic variants were found in the sample tested. However, some mutations occur at very low levels in certain tissues and may not be detectable in the sample provided. Your doctor will consider the result alongside your clinical symptoms and history.
Genetic counselling is strongly advisable before and after the mitochondrial genome sequencing test. A genetic counsellor can help you understand what the test can and cannot confirm, explain the implications of a positive result for you and your family, and guide next steps after results are available.
Mitochondrial Genome Sequencing Test: Booking, Price, and Results
