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NGSMito Comprehensive NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

NGSMito Comprehensive NGS Genetic Test

Short Name: NGSMito

Also known as: NGS Mito Test, Full Mitochondrial Genome Sequencing, mtDNA NGS Panel

NGSMito Comprehensive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / FTA Card samples. Results in Reports are generally delivered in 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

Molecular Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The primary purpose of NGSMito Comprehensive NGS Genetic Test is to identify disease-causing variants in the mitochondrial genome. It supports clinicians in diagnosing or excluding mtDNA-related disease across neurological, muscular, cardiac, visual, hearing, and metabolic presentations. The test may also help with family counseling when a pathogenic mitochondrial DNA variant is identified.

Test Code
3850
Price
₹20,000
Sample Type
Blood / Extracted DNA / FTA Card
Result Time
Reports are generally delivered in 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counseling session is recommended to draw a pedigree chart of family members affected with the condition. Please carry relevant clinical records, imaging, biochemical, and previous genetic testing reports.

Method: Venipuncture, dried blood spot on FTA card, or extracted DNA submission

Step 2

Laboratory Analysis

A trained phlebotomist will collect venous blood into an EDTA tube or prepare a dried blood spot on an FTA card. If you are submitting extracted DNA, follow the laboratory's sample submission instructions.

Step 3

Report Delivery

The sample is transported to the laboratory under appropriate conditions. Reports are usually available in 3 to 4 weeks. Please contact your treating doctor for clinical interpretation.

Timeline: Reports are generally delivered in 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. A genetic counseling session may be advised before the test to review the clinical history and draw a family pedigree.
2
During the Test:A small blood sample is collected. The test itself is non-invasive. If using an FTA card, a small finger-prick or heel-prick sample may be collected.
3
After the Test:There are no activity restrictions after sample collection. You should wait for the laboratory to advise the expected report date and discuss the results with your doctor.

About This Test

Who Should Get This Test

The primary purpose of NGSMito Comprehensive NGS Genetic Test is to identify disease-causing variants in the mitochondrial genome. It supports clinicians in diagnosing or excluding mtDNA-related disease across neurological, muscular, cardiac, visual, hearing, and metabolic presentations. The test may also help with family counseling when a pathogenic mitochondrial DNA variant is identified.

How to Prepare

  • No fasting is required
  • A prior genetic counseling session is recommended to record the family history
  • Provide the clinical history and any previous genetic or metabolic test records
  • Ensure the sample is correctly labeled with patient name and unique identification number

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"A three-generation family pedigree and detailed clinical phenotyping are essential before mitochondrial genome testing. Results should be interpreted by a clinical geneticist or neurologist, and reproductive implications should be discussed with a specialist."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / FTA Card
Sample VolumeAs instructed during booking
ContainerEDTA vacutainer / FTA card / sterile tube
Collection MethodVenipuncture, dried blood spot on FTA card, or extracted DNA submission

Sample Stability

Whole blood: follow laboratory transport recommendations, usually 72 hours at room temperature
FTA card: stable at ambient temperature after drying, protect from moisture and sunlight
Extracted DNA: store and transport at -20°C as per laboratory instructions
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient DNA quantity or quality
  • Incorrectly labeled sample or incomplete requisition form
  • Leaking or broken sample container
  • Unapproved sample type or expired collection tube

Understanding Your Results

Interpretation should be performed by a clinical geneticist, neurologist, or an experienced physician. The NGSMito report will include detected mtDNA variants and their clinical classification. Results must be correlated with clinical presentation and family history.
📊

Pathogenic variant detected

Indicates a molecular alteration known to cause a mitochondrial disorder; clinical correlation and management planning are required.

📊

Likely pathogenic variant detected

Suggests a strong possibility of disease association; additional clinical or family data may support the diagnosis.

📊

Variant of uncertain significance

A genetic alteration was found, but its medical significance is not yet determined; family studies may help clarify its role.

📊

No pathogenic variant detected

Reduces the likelihood of a mtDNA-related mitochondrial disorder but does not exclude all mitochondrial diseases.

⚠️ When to Consult a Doctor:

Consult your doctor if you or your child have unexplained developmental delay, muscle weakness, seizures, stroke-like episodes, vision or hearing loss, cardiomyopathy, unexplained diabetes, liver disease, or a family history of mitochondrial disease.

Limitations

  • Only mitochondrial DNA variants are detected; nuclear mitochondrial genes are not analyzed
  • A negative result cannot exclude mitochondrial disease caused by nuclear gene variants or other mechanisms
  • This test does not measure mitochondrial DNA copy number or depletion
  • Variants of uncertain significance may require family studies and further clinical correlation

Risks & Considerations

  • Minor bruising or discomfort at the venipuncture site
  • Dizziness or fainting during blood collection
  • FTA card collection is minimally invasive
  • Genetic results may cause anxiety; genetic counseling is recommended

Interfering Factors

  • Low DNA quantity or fragmented DNA
  • Sample contamination during collection or extraction
  • Heteroplasmic variants present below the assay detection limit
  • Presence of nuclear mitochondrial DNA segments that may complicate interpretation
  • Incomplete clinical or family history

Compare With Similar Tests

TestNGSMito Comprehensive NGS Genetic TestNGSMito Comprehensive NGS Genetic TestTargeted Mitochondrial Mutation PanelWhole Exome Sequencing
ComparisonNGSMito Comprehensive NGS Genetic Test

Frequently Asked Questions

What is NGSMito Comprehensive NGS Genetic Test?
It is a next-generation sequencing test that analyzes the entire mitochondrial genome to identify variants that may cause or contribute to mitochondrial disorders.
How much does NGSMito Comprehensive NGS Genetic Test cost at DNA Labs India?
The test costs Rs 20,000 at DNA Labs India. Home sample collection is free for online bookings in many cities across India.
What sample is required for this test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used. The laboratory will specify the preferred sample type and amount during booking.
Is fasting required before the test?
No, fasting is not required for NGSMito Comprehensive NGS Genetic Test.
What conditions can this test help diagnose?
It is used in the clinical evaluation of mitochondrial disorders, including MELAS, Leber hereditary optic neuropathy, mitochondrial myopathy, and MNGIE when integrated with clinical findings and other tests.
How is the mitochondrial DNA analyzed?
The full mitochondrial genome is sequenced using next-generation sequencing technology. Variants are classified and reported for clinical interpretation.
How long will the report take?
Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.
Can a negative result rule out mitochondrial disease?
No. A negative mtDNA sequencing result reduces the likelihood of a mitochondrial genome variant but does not exclude mitochondrial disease caused by nuclear gene variants or other mechanisms.
Does the report include interpretation by a doctor?
Yes. The test report is formulated for clinical interpretation and should be reviewed with the referring doctor or clinical geneticist who ordered the test.
Will raw data files be provided?
DNA Labs India shares Raw Data, FASTQ, and VCF files along with the conclusive clinical report for NGSMito Comprehensive NGS Genetic Test, supporting transparency and further analysis if needed.
Can NGSMito test detect nuclear gene mitochondrial disorders?
No, this test sequences mitochondrial DNA only. Nuclear genes associated with mitochondrial disorders need a separate nuclear gene panel or exome sequencing.
Who should order this test?
It is ordered by doctors such as neurologists, clinical geneticists, or metabolic specialists after clinical assessment and genetic counseling. Patients should not self-refer without a clinician's evaluation.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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