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NDUFA10 Gene Leigh syndrome NGS Genetic Test

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NDUFA10 Gene Leigh syndrome NGS Genetic Test

Short Name: NDUFA10 Leigh Syndrome NGS

Also known as: NDUFA10-related Leigh Syndrome, Leigh Syndrome NDUFA10 Gene Test, NDUFA10 Mitochondrial Disorder Panel

NDUFA10 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 from the date the sample reaches the laboratory.. 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 NGS genetic test is to confirm or rule out a diagnosis of NDUFA10-related Leigh syndrome in individuals with clinical features suggestive of Leigh syndrome, such as developmental regression, hypotonia, seizures, respiratory abnormalities, and ophthalmological or auditory dysfunction. Genetic confirmation is essential for confirming the diagnosis, differentiating from other mitochondrial cytopathies, guiding prognosis, and enabling recurrence risk assessment for family planning. This test is intended for individuals with clinical suspicion, affected families, or those with a known family history of NDUFA10 mutations.

Test Code
4163
CPT Code
81405, 81406
ICD Code
G31.89
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 from the date the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation such as fasting is required. The patient or guardian should provide a clear clinical history and any prior diagnostic reports. A genetic counseling session may be scheduled to discuss the implications of test results.

Method: Peripheral blood draw or FTA card spot

Step 2

Laboratory Analysis

Blood sample collection is performed by a trained phlebotomist under sterile conditions. For FTA card collection, a few drops of blood are placed on the designated circles and allowed to dry. For extracted DNA, proper labeling and storage conditions are essential.

Step 3

Report Delivery

The sample should be transported to the laboratory at ambient temperature or as directed by the collection kit. Keep the FTA card inside the protective pouch. For blood in EDTA tube, gentle mixing prevents clotting. There are no specific restrictions post-sample collection.

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

Patient Instructions

1
Before the Test:Provide the referring physician's name and contact. If the patient is already under the care of a neurologist, share imaging and biochemical reports. Genetic counseling is recommended to understand the implication of the test before sample collection.
2
During the Test:The test involves a single blood draw (or FTA card fingerstick). No sedation or anesthesia is needed. For infants, a heel-prick capillary blood sample may be used.
3
After the Test:After sample collection, you may return to normal activities. The laboratory will process the sample, and you will receive a notification when the report is ready. Any urgent findings, if detected, will be communicated to the referring physician promptly.

About This Test

Who Should Get This Test

The primary purpose of this NGS genetic test is to confirm or rule out a diagnosis of NDUFA10-related Leigh syndrome in individuals with clinical features suggestive of Leigh syndrome, such as developmental regression, hypotonia, seizures, respiratory abnormalities, and ophthalmological or auditory dysfunction. Genetic confirmation is essential for confirming the diagnosis, differentiating from other mitochondrial cytopathies, guiding prognosis, and enabling recurrence risk assessment for family planning. This test is intended for individuals with clinical suspicion, affected families, or those with a known family history of NDUFA10 mutations.

How to Prepare

  • Use EDTA vacutainer for blood collection (purple top).
  • For FTA card: apply whole blood drop onto the printed circles, let it air dry for 1 hour.
  • Do not freeze whole blood; store at 2-8°C if transport is delayed beyond 24 hours.
  • Label the sample with patient's full name, date of birth, and collection time.
  • Ensure proper packaging to avoid leakage or contamination.

Doctor's Notes

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

"NDUFA10-related Leigh syndrome is a rare mitochondrial disorder with early onset and progressive neurodegeneration. Timely genetic confirmation is critical for management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml blood or 10 µl extracted DNA or FTA spot
ContainerEDTA tube, DNA vial, or FTA card
Collection MethodPeripheral blood draw or FTA card spot

Sample Stability

Whole Blood (EDTA)
Extracted DNA
FTA Card Blood Spot
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted blood (if anticoagulant was used)
  • Sample without proper patient identification
  • FTA card with insufficient blood spots
  • Sample shipped beyond the stability period

Understanding Your Results

The clinical report provides a comprehensive interpretation of the NDUFA10 gene analysis. Variants are classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines. A positive result indicates the presence of a pathogenic or likely pathogenic mutation associated with NDUFA10-related Leigh syndrome. A negative result does not completely exclude the diagnosis if clinical suspicion is high; further testing may be warranted.
Pathogenic variant: Consistent with a diagnosis of NDUFA10-related Leigh syndrome. Recommended to review clinical findings and initiate supportive management.
Likely pathogenic variant: Strongly suggests causation; may benefit from further functional studies or familial segregation analysis.
Variant of Uncertain Significance (VUS): Cannot be definitively classified. Additional testing in family members or RNA analysis may be required.
No pathogenic variant detected: Reduces likelihood of NDUFA10 involvement but other genes associated with Leigh syndrome should be considered.
⚠️ When to Consult a Doctor:

If your child shows signs of developmental delay, loss of previously acquired milestones, hypotonia, unexplained seizures, or breathing difficulties, consult a pediatric neurologist or clinical geneticist. Early diagnosis can help guide therapy and family planning.

Limitations

  • ⚠This test detects mutations in the NDUFA10 gene only and does not rule out other genetic causes of Leigh syndrome.
  • ⚠Non-coding regulatory regions, deep intronic variants, and large structural rearrangements may not be fully resolved by NGS.
  • ⚠Interpretation of variants of uncertain significance (VUS) may require additional familial studies or functional assays.
  • ⚠Clinical correlation with biochemical and neuroimaging findings is recommended.

Risks & Considerations

  • ●Minimal pain or bruising at the blood draw site
  • ●Small risk of infection (very rare)
  • ●Psychological impact of a positive genetic result on family members

Interfering Factors

  • ●Contamination of sample with maternal DNA (in prenatal or neonatal samples)
  • ●Low DNA quality or quantity
  • ●Inadequate sequencing coverage due to loss of NDUFA10 gene region
  • ●Presence of large deletions/duplications not detectable by standard NGS (unless separate CNV analysis is requested)

Compare With Similar Tests

TestNDUFA10 Gene Leigh syndrome NGS Genetic TestLeigh Syndrome Comprehensive PanelMitochondrial Genome Sequencing (mtDNA)Whole Exome Sequencing
ComparisonNDUFA10 Gene Leigh syndrome NGS Genetic Test

Frequently Asked Questions

What is NDUFA10 gene Leigh syndrome?
NDUFA10 gene Leigh syndrome is a subtype of Leigh syndrome caused by mutations in the NDUFA10 gene, which encodes a subunit of mitochondrial complex I. It leads to defective oxidative phosphorylation and severe neurological symptoms commonly appearing in infancy or childhood.
What is the cost of the NDUFA10 gene NGS genetic test?
The cost of the NDUFA10 gene Leigh syndrome NGS genetic test at DNA Labs India is INR 20,000. This includes sample collection, DNA extraction, NGS sequencing, analysis, and clinical report.
What sample types are acceptable for this test?
The test can be performed on venous blood (EDTA tube), extracted DNA, or one drop of blood on an FTA card. For online bookings, free home sample collection is available in many cities across India.
How long does it take to get the report?
The turnaround time for the NDUFA10 gene Leigh syndrome NGS genetic test is 3 to 4 weeks from the date the sample is received by the laboratory.
Do I need to fast before the test?
No, no fasting is required for this genetic test. There are no dietary restrictions before blood collection.
The test only analyzes the NDUFA10 gene?
Yes, this NGS-based test is specifically customized to sequence the NDUFA10 gene, including coding exons and intron-exon boundaries. It does not rule out mutations in other genes associated with Leigh syndrome.
Will the test detect large deletions or duplications in the NDUFA10 gene?
Standard NGS may not reliably detect large copy number variants (CNVs). If indicated, a separate deletion/duplication analysis (e.g., MLPA) can be performed, but this is not included in the basic test.
Are raw data files (FASTQ, VCF) provided with the report?
Yes, DNA Labs India is transparent and will share raw data files such as FASTQ and VCF along with the clinical test report. This facilitates independent secondary analysis if needed.
Is genetic counseling required before testing?
Pre-test genetic counseling is strongly recommended. It helps in drawing a pedigree chart and discussing the potential implications of the results. The referring physician or a genetic counselor can provide this service.
Can this test be done on an asymptomatic individual with a family history?
Yes, presymptomatic testing for family members with a known NDUFA10 mutation can be performed. It is essential to have genetic counseling beforehand to understand the significance of a positive or negative result.
How is the sample collected at home?
A trained phlebotomist will visit your location to collect a blood sample (or provide an FTA card kit for finger-stick sampling). The sample is then securely transported to the laboratory. This service is free for online bookings.
Does DNA Labs India offer this test across all cities?
Yes, DNA Labs India provides free home sample collection for this test in over 100 cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and many others. You can book online and schedule a convenient time.
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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