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NDUFA2 Gene Leigh syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

NDUFA2 Gene Leigh syndrome NGS Genetic Test

Short Name: NDUFA2 Gene NGS Test

Also known as: NDUFA2 Leigh Syndrome NGS Test, NDUFA2 Mutation Analysis, Leigh Syndrome NDUFA2 Gene Panel, NDUFA2 Mitochondrial Respiratory Chain Complex I Test

NDUFA2 Gene Leigh syndrome 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 will be delivered within 3 to 4 weeks from the date of sample receipt. An express option is not available for this NGS-based test.. Free home collection in 300+ cities across India.

Genetic Testing🏠 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 purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the NDUFA2 gene that are associated with Leigh syndrome. The results help confirm the clinical diagnosis, facilitate genetic counselling, and guide treatment and monitoring strategies. It is also useful for presymptomatic testing in families with a known NDUFA2 mutation.

Test Code
4165
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports will be delivered within 3 to 4 weeks from the date of sample receipt. An express option is not available for this NGS-based test.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation or fasting is required. However, genetic counselling prior to testing is strongly advised. Kindly bring any relevant clinical history, family pedigree, and previous test reports if available. For patients under 18 years, parental consent and/or guardian presence is required.

Method: Venipuncture / Heel prick / FTA spot

Step 2

Laboratory Analysis

The sample is collected by a trained phlebotomist using standard safety protocols. For FTA card collection, a single drop of blood is spotted onto the card and allowed to air dry. The procedure is quick and minimally invasive.

Step 3

Report Delivery

For blood samples, the venipuncture site may be pressed to stop bleeding. Patients can resume their normal activities immediately. The sample should be stored/transported as per instructions provided by our collection team.

Timeline: Reports will be delivered within 3 to 4 weeks from the date of sample receipt. An express option is not available for this NGS-based test.

Patient Instructions

1
Before the Test:We recommend genetic counselling prior to testing to discuss the risks, benefits, and limitations of NGS genetic testing. A handwritten or electronic informed consent form must be filled and signed before the sample is collected.
2
During the Test:Our laboratory follows standard operating procedures for NGS. DNA is extracted from the sample, followed by targeted amplification and sequencing. The complete process takes around 2–3 weeks after sample receipt, followed by bioinformatics analysis and variant interpretation.
3
After the Test:Your clinician or genetic counsellor will receive the report and explain the results. The report includes the detected variant, its classification, clinical significance, and recommendations for further testing if needed. You may request a post-test genetic counselling session for a detailed explanation.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the NDUFA2 gene that are associated with Leigh syndrome. The results help confirm the clinical diagnosis, facilitate genetic counselling, and guide treatment and monitoring strategies. It is also useful for presymptomatic testing in families with a known NDUFA2 mutation.

How to Prepare

  • Identify the patient with two unique identifiers
  • For phlebotomy: collect 3 ml venous blood in an EDTA vacutainer and mix gently
  • For FTA card: apply one drop of blood on the marked circle, dry it at room temperature
  • Label the sample with the patient's name, date of birth, and collection date
  • Complete the test requisition form and consent form prior to collection

Doctor's Notes

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

"Early genetic diagnosis in Leigh syndrome helps guide family planning and surveillance for affected infants. If you have a family history or early neurological symptoms, genetic counseling is recommended before testing."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3 ml blood / 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture / Heel prick / FTA spot

Sample Stability

EDTA blood: 24 hours at 2–8°C; store at -20°C for longer periods
Extracted DNA: Stable for 1 year at -20°C
FTA card: Stable for several years at room temperature (15–30°C) in a dry environment
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume (< 2 ml blood)
  • FTA card with no blood spot or contaminated
  • Sample received > 48 hours after collection without cold chain
  • Unlabeled or mismatched sample

Understanding Your Results

Interpretation of the NDUFA2 gene sequencing results will be provided in the clinical report. The report is prepared by the molecular genetics team and reviewed by the consulting geneticist. A positive result indicates the presence of a pathogenic variant expected to cause Leigh syndrome.
Pathogenic or likely pathogenic variant detected: Confirms the molecular diagnosis of NDUFA2-related Leigh syndrome.
No pathogenic variant detected: A negative test does not exclude Leigh syndrome; sequence variations outside the coding regions or other genes may be responsible.
Variant of uncertain significance (VUS) detected: Additional testing of family members and further functional studies may be recommended.
⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if you or your child experiences unexplained developmental regression, seizures, hypotonia, or respiratory and visual difficulties. Early referral helps in timely diagnosis and management.

Limitations

  • ⚠This test only analyzes the NDUFA2 gene; mutations in other Leigh syndrome-related genes are not detected
  • ⚠NGS may not reliably detect large deletions, duplications, or structural variants
  • ⚠Mitochondrial heteroplasmy below the assay's detection limit may not be identified
  • ⚠Variants of uncertain significance (VUS) may be reported; clinical correlation is recommended

Risks & Considerations

  • ●Bruising or bleeding at the venipuncture site
  • ●Minimal discomfort or pain during sample collection
  • ●Very small risk of infection (rare with standard sterile technique)

Interfering Factors

  • ●Recent blood transfusion or bone marrow transplantation may dilute host DNA
  • ●Hematopoietic chimerism after stem cell transplant
  • ●Contamination or use of degraded DNA samples
  • ●Sample mix-up or incorrect labeling

Compare With Similar Tests

TestNDUFA2 Gene Leigh syndrome NGS Genetic TestLeigh Syndrome Nuclear Gene PanelMitochondrial DNA (mtDNA) SequencingWhole Mitochondrial Genome NGS TestWhole Exome Sequencing for Neurological Disorders
ComparisonNDUFA2 Gene Leigh syndrome NGS Genetic Test

Frequently Asked Questions

What is the NDUFA2 gene?
The NDUFA2 gene is located on chromosome 18 and encodes a subunit of complex I of the mitochondrial respiratory chain. This complex is essential for the production of cellular ATP. Mutations in the NDUFA2 gene can lead to complex I deficiency, which is associated with Leigh syndrome.
Why is NGS used for testing NDUFA2 gene?
Next Generation Sequencing (NGS) allows rapid and accurate sequencing of the NDUFA2 gene, including all exons and splice sites. It is a highly sensitive method to detect small insertions, deletions, and single nucleotide variants that may cause Leigh syndrome.
What is the cost of the NDUFA2 Leigh syndrome NGS genetic test?
The test costs ?20,000 in India. This special price includes free home sample collection, genetic counselling, and the clinical report. Additional raw data files (FASTQ and VCF) are provided at no extra cost.
Does the test require fasting?
No, fasting is not required for this genetic test. You can eat and drink normally before the sample collection.
What sample type is needed?
The sample can be whole blood collected in an EDTA vacutainer, extracted DNA, or a single drop of blood spotted on an FTA card. For infants and children, the FTA card method is convenient and less invasive.
How long does it take to get the report?
The turnaround time is 3 to 4 weeks. This includes DNA extraction, sequencing, bioinformatics analysis, variant interpretation, and clinical reporting.
Does DNA Labs India provide raw data files?
Yes, DNA Labs India is transparent and provides raw data files (FASTQ and VCF) along with the conclusive clinical report. This allows verification and future reanalysis by other experts.
Who should get this NDUFA2 gene NGS test?
It is recommended for patients presenting with clinical features suggestive of Leigh syndrome, individuals with a family history of NDUFA2 mutations, and children with developmental regression, hypotonia, or seizure disorder of unknown etiology.
Can this test be done on children?
Yes, this test can be performed on children. For minors, a parent or legal guardian must provide consent. A pediatric FTA card sample is often preferred for newborns and young children.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across more than 200 cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and others. You can book online and a phlebotomist will visit your home.
What are the limitations of this test?
This test only analyzes the NDUFA2 gene. It may not detect large structural variants or deep intronic mutations. Other Leigh syndrome-associated genes are not covered by this targeted test.
Will insurance cover the cost of this test?
Most Indian insurance policies do not cover outpatient genetic testing. However, some private insurance plans or corporate health schemes may offer partial reimbursement if the test is prescribed by a specialist. We recommend you check with your insurance provider before booking.
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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