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NDUFA9 Gene Leigh syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

NDUFA9 Gene Leigh syndrome NGS Genetic Test

Short Name: NDUFA9 Gene NGS Test

Also known as: NDUFA9 gene sequencing, Leigh syndrome genetic test, Complex I deficiency NGS panel

NDUFA9 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 are delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

To detect mutations in the NDUFA9 gene that cause Leigh syndrome and confirm the clinical diagnosis, facilitate clinical management, and guide genetic counseling and family planning.

Test Code
4168
ICD Code
G31.81
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 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. Please share complete clinical history, neuroimaging findings, and any prior test reports. A genetic counseling session is recommended before providing the sample.

Method: Venipuncture or Blood spot on FTA card

Step 2

Laboratory Analysis

Blood is collected from a vein in the arm using a sterile needle. For FTA card samples, few drops of blood are spotted onto the card and allowed to dry.

Step 3

Report Delivery

You can resume normal activities immediately. No specific precautions are needed. The sample will be transported to the laboratory for analysis.

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

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is recommended to review the patient's family history, explain the purpose of the test, and obtain informed consent. No special medical preparation is required.
2
During the Test:During the test, a blood sample is drawn or an FTA card sample is collected. The procedure is quick and involves only minimal discomfort.
3
After the Test:After the test, samples are processed in the laboratory. The patient will receive an appointment for result interpretation and genetic counseling once the report is ready.

About This Test

Who Should Get This Test

To detect mutations in the NDUFA9 gene that cause Leigh syndrome and confirm the clinical diagnosis, facilitate clinical management, and guide genetic counseling and family planning.

How to Prepare

  • Blood samples should be collected in an EDTA vacutainer.
  • If collecting on an FTA card, ensure the card is fully dried before packaging.
  • Label the sample clearly with the patient's full name and unique identification number.
  • Samples should be transported at room temperature and reach the laboratory within 24 hours.

Doctor's Notes

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

"This NGS test provides a definitive molecular diagnosis for Leigh syndrome caused by NDUFA9 mutations. Early diagnosis allows for proper genetic counseling, family planning, and symptom management. I recommend this test for any patient presenting with unexplained developmental delay, hypotonia, or metabolic acidosis with suggestive neuroimaging."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
ContainerBlood collection tube or FTA card
Collection MethodVenipuncture or Blood spot on FTA card

Sample Stability

Whole blood (EDTA): 24 hours at room temperature
Extracted DNA: 6 months at -20°C
FTA card: 12 months at room temperature
Sample Rejection Criteria:
  • Hemolyzed or lipemic blood sample
  • Clotted blood sample without anticoagulant
  • Incorrect sample labeling
  • Sample expired or contaminated

Understanding Your Results

The NDUFA9 gene NGS test detects mutations in the NDUFA9 gene that cause Leigh syndrome (mitochondrial complex I deficiency). The interpretation is based on the American College of Medical Genetics and Genomics (ACMG) guidelines for variant classification.
📊

Negative (no pathogenic variants detected)

No clinically significant mutations were identified in the NDUFA9 gene. Clinical diagnosis should be re-evaluated and other genetic causes of Leigh syndrome should be considered.

📊

Positive (pathogenic variant detected)

A disease-causing mutation was identified in the NDUFA9 gene. This confirms the diagnosis of NDUFA9-related Leigh syndrome and allows for management and family counseling.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found whose clinical significance is currently unknown. Additional testing of family members and further functional studies may be needed to clarify its role.

⚠️ When to Consult a Doctor:

If your test result is positive or if you receive a VUS result, consult a clinical geneticist, neurologist, and metabolic disease specialist for personalized management and follow-up.

Limitations

  • ⚠This test analyzes only the NDUFA9 gene based on coding regions and splice junctions; it does not detect all genetic causes of Leigh syndrome.
  • ⚠Large deletions, duplications, or structural rearrangements in the NDUFA9 gene may not be detected by standard NGS.
  • ⚠Variants of uncertain significance may be reported and require further interpretation.
  • ⚠A negative result does not exclude a mitochondrial or other genetic etiology in the absence of clinical confirmation.

Risks & Considerations

  • ●Minimal discomfort during blood collection
  • ●Slight bruising at the puncture site
  • ●Very small risk of infection or excessive bleeding

Interfering Factors

  • ●Poor quality or degraded DNA sample
  • ●Sample contamination by microbial DNA
  • ●Recent bone marrow transplant (if whole blood is used)
  • ●Variants of uncertain significance may require additional family testing

Frequently Asked Questions

What is the NDUFA9 gene Leigh syndrome NGS genetic test?
This is a next-generation sequencing test that analyzes the NDUFA9 gene, which is associated with mitochondrial complex I deficiency and Leigh syndrome. It detects mutations that may cause the disease.
Why is the NDUFA9 gene tested for Leigh syndrome?
Mutations in the NDUFA9 gene impair mitochondrial energy production, leading to Leigh syndrome. Testing this gene confirms the molecular diagnosis and helps guide clinical management.
What is the cost of the NDUFA9 gene genetic test at DNA Labs India?
The test costs INR 20000. This is a special discounted price that includes free home sample collection across India.
What type of sample is required for this test?
The sample can be either whole blood in an EDTA tube, extracted DNA, or one drop of blood spotted on an FTA card.
Do I need to fast before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long will it take to get the report?
The turnaround time is 3 to 4 weeks after the sample is received in the laboratory.
Will I receive raw data files with the report?
Yes, DNA Labs India provides raw data files in FASTQ and VCF formats along with the conclusive clinical report. We are the only laboratory in India that shares this level of data transparency.
Is home sample collection available for this test?
Yes, we offer free home sample collection for online bookings across more than 200 cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, and Chennai.
Who can order this test?
A neurologist, clinical geneticist, or pediatrician typically orders this test for patients with suspected Leigh syndrome. A genetic counseling session is recommended before testing.
What does a positive result mean?
A positive result means that a disease-causing pathogenic variant was identified in the NDUFA9 gene, confirming the diagnosis of NDUFA9-related Leigh syndrome.
Can this test detect all causes of Leigh syndrome?
No. This test only analyzes the NDUFA9 gene. Leigh syndrome can be caused by mutations in multiple nuclear and mitochondrial genes. If the NDUFA9 test is negative, additional testing may be required.
How should I prepare for the genetic counseling session?
Prepare by collecting information about family history, any known medical conditions in relatives, previous test reports, and a list of symptoms or developmental milestones. This helps the counselor draw an accurate pedigree and assess the need for the test.
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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