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DNA Labs India

NGSMito Genome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

NGSMito Genome NGS Genetic Test

Short Name: NGSMito Genome

Also known as: NGSMito Genome, Mitochondrial Genome NGS, mtDNA NGS Genetic Test, NGS Mitochondrial Genome Analysis

NGSMito Genome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) – Full Mitochondrial Genome Sequencing on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 weeks after sample receipt at DNA Labs India. In cases where repeat testing or orthogonal confirmation is required, the turnaround time may be longer.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The primary purpose of the NGSMito Genome NGS Genetic Test is to identify mtDNA variants that may cause mitochondrial disorders. The test provides the treating clinician with high-quality sequencing data to support a diagnosis, guide symptomatic management, assess family risk, and inform reproductive planning where appropriate.

Test Code
3853
CPT Code
Not available
ICD Code
Not available
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
3 to 4 weeks after sample receipt at DNA Labs India. In cases where repeat testing or orthogonal confirmation is required, the turnaround time may be longer.
Fasting Required
No
Method
Next Generation Sequencing (NGS) – Full Mitochondrial Genome Sequencing
Step 1

Sample Collection

No fasting is required. A genetic counselling session is recommended to document the family history and prepare a pedigree chart. The treating physician should provide the clinical history, relevant biochemical findings, and a list of affected family members if available.

Method: Peripheral blood draw or FTA card blood spot

Step 2

Laboratory Analysis

A small blood sample is drawn from a vein in the arm by a trained phlebotomist. If the FTA card method is used, a single drop of blood is applied to the card. The process is quick and causes minimal discomfort.

Step 3

Report Delivery

Once the sample is collected, you may leave immediately and carry on your normal activities. The laboratory will process the sample for NGS analysis. Reports are delivered in 3 to 4 weeks.

Timeline: 3 to 4 weeks after sample receipt at DNA Labs India. In cases where repeat testing or orthogonal confirmation is required, the turnaround time may be longer.

Patient Instructions

1
Before the Test:No special preparation is required; however, a genetic counselling session to document family history and pedigree is advised.
2
During the Test:A small blood sample is taken from a vein or a dried blood spot is collected on an FTA card. The procedure is short and painless for most patients.
3
After the Test:You can resume normal routines. There are no post-test restrictions.

About This Test

Who Should Get This Test

The primary purpose of the NGSMito Genome NGS Genetic Test is to identify mtDNA variants that may cause mitochondrial disorders. The test provides the treating clinician with high-quality sequencing data to support a diagnosis, guide symptomatic management, assess family risk, and inform reproductive planning where appropriate.

How to Prepare

  • No fasting is required.
  • Please carry the doctor's prescription and clinical summary, if available.
  • A genetic counselling session will be arranged before sample collection to note family history.
  • Verify the sample label and requisition form before giving the sample.

Doctor's Notes

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

"A positive mitochondrial DNA finding can have important implications for the patient and maternal relatives. This test should ideally be ordered after a specialist clinical assessment, and the result should be reviewed with the reporting geneticist as well as the treating physician."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample VolumeAs required for DNA extraction (as per laboratory protocol)
ContainerEDTA Vacutainer / Extracted DNA tube / FTA Card
Collection MethodPeripheral blood draw or FTA card blood spot

Sample Stability

Whole blood in EDTA: generally stable for 24 to 48 hours at 2-8°C.
Extracted DNA: generally stable for months at -20°C in appropriate DNA storage buffer.
FTA card: generally stable for several months at room temperature in dry conditions.
Note: Follow the laboratory's sample stability instructions provided with the collection kit.
Sample Rejection Criteria:
  • Clotted, severely haemolyzed or contaminated blood sample
  • Unlabeled or mislabeled specimen
  • Insufficient DNA concentration or degraded DNA
  • Improperly stored or expired FTA card

Understanding Your Results

Variants identified by NGS are interpreted according to international guidelines and reviewed in the clinical context of the patient. The classification of variants is reported as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. Heteroplasmy levels, if detected, are documented because they can influence clinical expression.
📊

Pathogenic variant detected

Indicates a molecular cause for a mitochondrial disorder. Clinical correlation and maternal family history review are recommended.

📊

Likely pathogenic variant detected

Variant may be disease-causing; additional clinical or family evidence may be required.

📊

Variant of uncertain significance (VUS)

Cannot be definitively classified at this time. Additional family testing or functional studies may be helpful.

📊

No pathogenic variant detected

A mitochondrial genome cause is less likely, but nuclear mitochondrial disorders or low-level heteroplasmy should still be considered.

⚠️ When to Consult a Doctor:

Consult a doctor if you or your child have unexplained fatigue, muscle weakness, seizures, developmental delay or regression, sensorineural hearing loss, optic atrophy, recurrent vomiting, or metabolic acidosis. These symptoms need a comprehensive medical evaluation before any genetic testing is considered.

Limitations

  • This test evaluates only the mitochondrial genome and not nuclear genes involved in mitochondrial function.
  • Very low heteroplasmy or certain structural rearrangements may not be detected by standard NGS.
  • A negative result does not exclude mitochondrial disease; clinical correlation and additional biochemical or nuclear gene testing may be needed.
  • Variant classification may change as scientific knowledge evolves.

Risks & Considerations

  • Minor bruising at the puncture site
  • Dizziness or light-headedness during or after blood draw
  • Very small risk of local infection if the site is not kept clean

Interfering Factors

  • Low heteroplasmy below the validated detection threshold
  • Clotted, haemolyzed or degraded DNA sample
  • Contamination by nuclear-mitochondrial DNA segments (NUMTs) requiring bioinformatics filtering
  • Recent allogeneic stem cell transplant or blood transfusion may affect blood-derived DNA results; notify the laboratory prior to testing

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Frequently Asked Questions

What is the NGSMito Genome NGS Genetic Test?
It is a Next Generation Sequencing test that analyzes the mitochondrial genome to detect genetic mutations or abnormalities associated with mitochondrial disorders.
What is the cost of the NGSMito Genome NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India. Free home sample collection is included for online bookings in many cities across India.
Is fasting required for this test?
No, fasting is not required for this test.
What sample is needed for the NGSMito Genome test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used for this test.
How long does it take to get the report?
Reports are generally ready in 3 to 4 weeks after the laboratory receives the sample.
Will I receive raw data with my report?
Yes. DNA Labs India provides FASTQ, VCF and raw data files along with the clinical report on request for transparency.
What symptoms suggest a mitochondrial DNA disorder?
Common symptoms include fatigue, muscle weakness, vision and hearing problems, gastrointestinal issues, seizures, and developmental delays. However, a doctor should evaluate these symptoms.
Is the NGSMito Genome test covered by health insurance?
In most cases, no. You should check with your health insurer because coverage varies by policy.
Can this test detect all mitochondrial disorders?
No. It analyzes mitochondrial DNA only. Nuclear gene mutations that cause mitochondrial dysfunction may not be detected by this test.
Who should request this test?
It should be requested by a qualified doctor, usually a neurologist, clinical geneticist, or another specialist after proper clinical evaluation.
Does a negative result exclude mitochondrial disease?
A negative result reduces the likelihood of mtDNA mutations but does not completely exclude mitochondrial disease, especially if a nuclear gene defect or low-level heteroplasmy is present.
How should I prepare for the test?
No fasting is needed, but a genetic counselling session is recommended to record family history and prepare a pedigree before sample collection.
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.
For Hospitals & Clinics

Reference Laboratory Services

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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Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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