Whole Mitochondrial Genome Sequencing
Whole Mitochondrial Genome NGS Panel, EDTA Blood** Price
Brief Details
What is a Whole Mitochondrial Genome Sequencing Test?
A whole mitochondrial genome sequencing test is an advanced genetic test that examines the complete DNA sequence of the mitochondria in your body's cells. Mitochondria are often called the "powerhouses" of the cell because they generate most of the energy needed for your organs to function properly.
This test helps diagnose or rule out mitochondrial diseases, which are a group of genetic disorders caused by changes in the mitochondrial DNA.
What does the Whole Mitochondrial Genome Sequencing Test measure?
The test specifically measures and identifies several key aspects of your mitochondrial DNA:
- Genetic variants (mutations): It reads the entire sequence of the 37 genes in mitochondrial DNA to find any changes that could be causing health problems
- Heteroplasmy levels: It measures the percentage of mutated DNA compared to normal DNA in your sample
- Large deletions or duplications: It detects if large pieces of mitochondrial DNA are missing or have been copied extra times
- Complete mitochondrial genome coverage: Ensures all areas of the mitochondrial DNA are examined thoroughly
Whole Mitochondrial Genome Sequencing Test: Who Needs It and Why It's Done
What Symptoms May Call for a Whole Mitochondrial Genome Sequencing Test?
Doctors may recommend this test when you show a complex pattern of symptoms affecting multiple organ systems, especially those that require a lot of energy:
- Muscle problems: Unexplained muscle weakness, pain, low muscle tone, or difficulty with exercise
- Neurological Disorders: Developmental delays, seizures, stroke-like episodes, dementia, and movement disorders
- Heart problems: Weakening of the heart muscle or abnormal heart rhythms
- Vision and hearing: Vision loss, drooping eyelids, difficulty moving the eyes, and hearing problems
- Other symptoms: Diabetes, kidney problems, digestive issues, and unexplained fatigue
Who should get a Whole Mitochondrial Genome Sequencing Test?
This specialised test is recommended for specific groups of people:
- Patients with unexplained symptoms: Individuals from infants to adults who show a combination of the symptoms listed above without a clear diagnosis
- People with family history: Those who have a close relative diagnosed with a known mitochondrial disease
- Patients with atypical disease presentation: When symptoms don't fit a common disease pattern and a mitochondrial disorder might be the underlying cause
Why is a Whole Mitochondrial Genome Sequencing Test done?
This test provides a definitive genetic diagnosis for suspected mitochondrial disease, helping to end a long diagnostic journey and guide proper medical management and treatment planning.
Importance of a Whole Mitochondrial Genome Sequencing Test
The whole mitochondrial genome sequencing test is clinically important as one of the most comprehensive methods for diagnosing inherited mitochondrial disorders. It provides a definitive diagnosis that can pinpoint the exact genetic cause of your symptoms, which may have been unexplained for years. A specific diagnosis helps doctors manage the condition effectively through targeted treatments, vitamin supplements, dietary recommendations, and monitoring for potential complications.
The test also enables accurate genetic counselling for you and your family, helping you understand inheritance patterns and risks for other family members or future children.
Whole Mitochondrial Genome Sequencing Test Booking & Reports – Metropolis Healthcare India
How to Book a Whole Mitochondrial Genome Sequencing Test?
- Simple Online Booking
Booking can be done through the Metropolis Healthcare app or website. Select Whole Mitochondrial Genome Sequencing Test, choose a convenient time slot, and provide your address for a blood test at home. You can also visit the nearest Metropolis Lab if you prefer to give the sample directly at the lab.
- Safe Home Sample Collection
Our trained phlebotomists ensure timely collection of your sample while strictly following all safety and hygiene protocols.
- Sample Tracking Updates
Stay informed at every step. From collection to testing, you can track your sample directly through the Metropolis Healthcare website.
- Accurate Laboratory Testing
Your sample is processed at our NABL & CAP accredited laboratories, where expert technicians ensure accurate results.
- Quick & Easy Reports
Receive your test reports promptly via email, WhatsApp, or by downloading them directly from the Metropolis Healthcare website or app.
Is home sample collection for Whole Mitochondrial Genome Sequencing Test available near you?
Yes, home blood sample collection is available for the whole mitochondrial genome sequencing test. Our trained phlebotomists follow strict safety protocols while collecting your blood sample and processing it in NABL & CAP accredited labs. With our extensive network of over 10,000 touchpoints, our reliable home collection services ensure you receive accurate results without compromising on quality or convenience.
How Long Does It Take to Get a Whole Mitochondrial Genome Sequencing Test Report?
Reports are usually available after 4 weeks by 6:00 PM once the sample reaches the pathology lab.
Note: Reporting time may vary depending on your location.
Where can I see or get Whole Mitochondrial Genome Sequencing Test results?
Test results from Metropolis Healthcare can be accessed through multiple convenient channels. You can log in to the Metropolis website using your credentials or use the Metropolis Healthcare app to view and download your reports. Additionally, test reports are sent via email or WhatsApp, and you also have the option to collect a physical copy directly from the lab.
Interpreting Whole Mitochondrial Genome Sequencing Test Results
What Your Whole Mitochondrial Genome Sequencing Test Results May Indicate
The table below explains the different types of results you may receive from your whole mitochondrial genome sequencing test:
|
Result Type |
Classification |
Meaning |
|
Pathogenic Variant |
Disease-causing |
A genetic change known to cause mitochondrial disease has been identified |
|
Likely Pathogenic |
Very likely disease-causing |
A variant that probably contributes to disease, but needs more scientific evidence |
|
Variant of Uncertain Significance (VUS) |
Unknown significance |
A genetic change found, but unclear if it causes disease or is harmless |
|
No Variant Detected |
Normal/Negative |
No known disease-causing mutations were found in the mitochondrial DNA |
Conditions that May Affect Whole Mitochondrial Genome Sequencing Test Accuracy
Several factors should be considered when interpreting your whole mitochondrial genome sequencing test results:
- Sample quality: Haemolysed, clotted, or insufficient blood samples can affect the accuracy of genetic analysis
- Laboratory conditions: Improper sample storage temperature or handling may impact DNA quality
- Technical limitations: Some genetic variations may not be detected by the specific sequencing method used
- Heteroplasmy levels: The percentage of mutated mitochondrial DNA in different tissues may vary
- Recent blood transfusions: May temporarily affect the genetic profile of red blood cells, WBS, or platelets in your blood sample
How is a Whole Mitochondrial Genome Sequencing Test Done?
The whole mitochondrial genome sequencing test follows a systematic laboratory process to analyse your mitochondrial DNA:
- A healthcare professional draws 3-5 ml of blood from a vein in your arm using an EDTA tube
- Laboratory technicians extract mitochondrial DNA from your blood cells
- The entire mitochondrial genome is selectively amplified using specialised techniques
- DNA is prepared for sequencing using advanced molecular biology methods
- The sample is sequenced on high-tech platforms to achieve comprehensive coverage
- Sophisticated software aligns and compares your DNA sequence to reference genomes
- Expert geneticists analyse the findings and prepare your detailed report
How Should You Prepare for a Whole Mitochondrial Genome Sequencing Test?
Preparing for your whole mitochondrial genome sequencing test is straightforward and requires minimal preparation:
- You can eat and drink normally before the test
- Take all prescribed medicines unless your doctor advises otherwise
- Drink adequate water to make the blood draw easier
- Choose clothes that allow easy access to your arm
- Ensure you have your doctor's prescription and clinical history
- Tell your healthcare provider about all medicines and supplements you're taking
Diseases that a Whole Mitochondrial Genome Sequencing Test Can Help Detect
The whole mitochondrial genome sequencing test can help diagnose various mitochondrial disorders and related health conditions:
- Leigh disease: A severe neurological disorder affecting the central nervous system
- MELAS syndrome: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
- MERRF syndrome: Myoclonic epilepsy with ragged red fibres
- Kearns-Sayre syndrome: A disorder affecting multiple body systems including eyes and heart
- Pearson syndrome: A severe multisystem disorder affecting bone marrow and pancreas
- Leber hereditary optic neuropathy: A condition causing vision loss
- Mitochondrial cardiomyopathy: Heart muscle disease caused by mitochondrial dysfunction
- Complex I, II, III, IV, or V deficiencies: Specific enzyme defects in the mitochondrial respiratory chain
Whole Mitochondrial Genome Sequencing Test/Packages that You Can Book With Metropolis Healthcare
Metropolis Healthcare offers comprehensive testing options to support your mitochondrial health assessment and genetic counselling needs:
|
Test/Package Name |
Purpose/Highlights |
|
Professional guidance for understanding genetic test results and family planning |
|
|
Complete assessment of metabolic function including glucose, electrolytes, and kidney function |
|
|
Mitochondrial (M2) Antibody by IFA Reflex to Endpoint Titre Serum |
Detects autoimmune antibodies that may affect mitochondrial function |
Frequently asked questions
Find quick answers to the most common questions about health tests, bookings, and reports.
Regular exercise, a balanced diet, avoiding smoking, maintaining a healthy weight, and managing stress all help reduce heart disease risk.
Common signs include irritability, trouble sleeping, headaches, difficulty concentrating, and muscle tension.
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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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