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MT-ND1 Gene Mitochondrial complex I deficiency NGS Genetic Test

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MT-ND1 Gene Mitochondrial complex I deficiency NGS Genetic Test

Short Name: MT-ND1 NGS Test

Also known as: MT-ND1 Gene Sequencing, Mitochondrial Complex I Deficiency NGS Panel, MT-ND1 Mutation Analysis

MT-ND1 Gene Mitochondrial complex I deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically delivered within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The primary purpose of this test is to identify pathogenic variants in the MT-ND1 gene using advanced next-generation sequencing technology. It aids in the diagnosis of mitochondrial complex I deficiency, provides prognostic information, and informs genetic counseling for affected families.

Test Code
4294
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks from the date of sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Fasting is not needed. A valid physician's referral and signed informed consent are required. A genetic counseling session is recommended to discuss the purpose, risks, and benefits of the test.

Method: Blood draw / FTA card spot

Step 2

Laboratory Analysis

A blood sample is drawn from a vein in your arm. Alternatively, a few drops of blood may be placed on an FTA card. The procedure is quick and routine.

Step 3

Report Delivery

There are no dietary or activity restrictions after the test. The sample is transported to the laboratory at ambient temperature. You will receive the report via email/online portal within 3 to 4 weeks.

Timeline: Reports are typically delivered within 3 to 4 weeks from the date of sample receipt.

Patient Instructions

1
Before the Test:No special preparation is needed. Avoid unnecessary physical exertion before sample collection. Carry any previous medical records, MRI/CT scans, or biochemical reports to correlate with genetic findings.
2
During the Test:The test involves a simple blood sample collection. If an FTA card is used, a small drop of blood is taken from a fingertip or heel. The process takes only a few minutes.
3
After the Test:You may resume your regular activities immediately after sample collection. The laboratory will provide a sample receipt with the expected report date. Genetic counseling is offered after the results are available.

About This Test

Who Should Get This Test

The primary purpose of this test is to identify pathogenic variants in the MT-ND1 gene using advanced next-generation sequencing technology. It aids in the diagnosis of mitochondrial complex I deficiency, provides prognostic information, and informs genetic counseling for affected families.

How to Prepare

  • Use an EDTA vacutainer for blood collection; do not use heparinized tubes.
  • For FTA card, ensure all circles are completely saturated with blood.
  • Label the sample clearly with patient's full name, date of birth, and collection date.
  • Store blood at 2-8°C if processing is delayed beyond 24 hours.
  • Do not freeze whole blood.

Doctor's Notes

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

"This test is valuable for families with suspected mitochondrial disease, as MT-ND1 variants are maternally inherited. Genetic counseling is essential to understand recurrence risks and reproductive options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory standard (2-3 ml blood or FTA card spot)
ContainerEDTA vacutainer / FTA card
Collection MethodBlood draw / FTA card spot

Sample Stability

Whole blood in EDTA: 24-48 hours at 2-8°C
Extracted DNA: 1 week at 2-8°C
FTA card: Several months at room temperature
Sample Rejection Criteria:
  • Hemolysed or clotted blood sample
  • Mislabeled or unlabeled sample
  • Insufficient sample volume
  • Sample stored or transported at extreme temperatures
  • Exposure of FTA card to moisture

Understanding Your Results

The interpretation of MT-ND1 gene variants is performed by a clinical geneticist. Variants are classified according to ACMG/AMP guidelines as pathogenic, likely pathogenic, benign, likely benign, or variant of uncertain significance. The result is correlated with the clinical phenotype and family history.
Pathogenic/likely pathogenic variant: Consistent with a diagnosis of mitochondrial complex I deficiency.
No pathogenic variant detected: Does not rule out mitochondrial disease; other gene tests may be considered.
Variant of uncertain significance (VUS): Not enough evidence to determine clinical significance; additional studies or testing of family members may be needed.
Heteroplasmic variant: Presence of both mutant and normal mitochondrial DNA; correlation with heteroplasmy level and symptoms required.
⚠️ When to Consult a Doctor:

Consult a physician or geneticist if you or your child have any symptoms suggestive of mitochondrial disease, such as unexplained muscle weakness, developmental regression, seizures, lactic acidosis, or multisystem involvement. Early diagnosis can help manage symptoms and provide recurrence risk information.

Limitations

  • ⚠This test analyzes only the MT-ND1 gene and will not detect pathogenic variants in other mitochondrial or nuclear genes associated with complex I deficiency.
  • ⚠Negative result does not exclude other mitochondrial diseases.
  • ⚠Variants of uncertain clinical significance may be reported and require further validation.
  • ⚠NGS may not reliably detect large deletions or rearrangements in the mitochondrial genome.
  • ⚠Clinical interpretation requires correlation with patient symptoms, biochemical findings, and family history.

Risks & Considerations

  • ●Minor pain or discomfort at the site of venipuncture
  • ●Small risk of bruising or hematoma
  • ●Very rare risk of infection or bleeding

Interfering Factors

  • ●Maternal cell contamination in the sample
  • ●Low DNA quantity or quality due to improper storage or handling
  • ●Bone marrow transplantation from a donor with different mtDNA types
  • ●Recent allogeneic stem cell transfusion
  • ●Presence of large mtDNA deletions not reliably detected by NGS
  • ●Low-level heteroplasmy below the analytic sensitivity of the assay

Compare With Similar Tests

TestMT-ND1 Gene Mitochondrial complex I deficiency NGS Genetic TestMitochondrial Genome Sequencing (mtDNA)Nuclear Mitochondrial Gene PanelMT-ND4 Gene Mitochondrial Complex I Deficiency NGS TestLeigh Syndrome NGS PanelMELAS A3243G Mutation Test
ComparisonMT-ND1 Gene Mitochondrial complex I deficiency NGS Genetic Test

Frequently Asked Questions

What is the MT-ND1 gene?
The MT-ND1 gene is located in mitochondrial DNA and encodes the ND1 subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase). This enzyme is essential for cellular energy production.
What is mitochondrial complex I deficiency?
Mitochondrial complex I deficiency is a rare metabolic disorder caused by defects in the first complex of the electron transport chain. It leads to impaired ATP production and can affect multiple organ systems.
How is the MT-ND1 NGS genetic test performed?
The test is performed on a blood sample (or extracted DNA or FTA card) using next-generation sequencing. The MT-ND1 gene is fully sequenced and analyzed for pathogenic variants.
Do I need to fast before this test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
What is the cost of the MT-ND1 gene mitochondrial complex I deficiency NGS test?
The cost is INR 20,000. This includes home sample collection, genetic counseling, and a comprehensive clinical report.
What does the test detect?
The test detects pathogenic variants in the MT-ND1 gene, including single nucleotide variants and small insertions/deletions. It also reports heteroplasmy levels.
What is heteroplasmy?
Heteroplasmy refers to the presence of both normal and mutant mitochondrial DNA in a cell. The ratio can influence the severity and onset of symptoms.
Can this test be done on an FTA card?
Yes, a single drop of blood on an FTA card is acceptable. The FTA card allows for easy transport and storage at room temperature.
Will I get raw data files?
Yes, DNA Labs India provides raw data files (FASTQ, VCF, and BAM files) along with the clinical report. This ensures transparency and allows further analysis if needed.
How long does it take to get the report?
The turnaround time is 3 to 4 weeks. However, it may vary depending on the complexity of the case and sample quality.
What does a positive test result mean?
A pathogenic variant in MT-ND1 confirms the diagnosis of mitochondrial complex I deficiency. The result should be discussed with a geneticist and neurologist for management.
Is genetic counseling recommended?
Yes, genetic counseling is strongly recommended before and after the test. It helps patients and families understand the inheritance, recurrence risks, and reproductive options.
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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