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NDUFAF1 Gene Leigh syndrome NGS Genetic Test

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NDUFAF1 Gene Leigh syndrome NGS Genetic Test

Short Name: NDUFAF1 Leigh NGS

Also known as: NDUFAF1 Gene Mutation Analysis, Leigh Syndrome NGS Panel, Complex I Deficiency Genetic Test, Mitochondrial Respiratory Chain Disorder Test

NDUFAF1 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 usually available within 3 to 4 weeks after sample receipt at the laboratory. The turnaround time may vary if sample re-testing or family segregation analysis is required.. Free home collection in 300+ cities across India.

NGS Genetic TestAll ages (most commonly investigated in infants and children)🏠 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 detect pathogenic or likely pathogenic variants in the NDUFAF1 gene that are associated with Leigh syndrome. It confirms the genetic basis of disease in symptomatic individuals, assists in evaluating unexplained neurodevelopmental regression, and helps families understand recurrence risks and reproductive options.

Test Code
4167
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are usually available within 3 to 4 weeks after sample receipt at the laboratory. The turnaround time may vary if sample re-testing or family segregation analysis is required.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. A referral or clinical history from the treating neurologist is recommended. Genetic counselling is advised before testing. Please ensure the blood sample is collected in the approved EDTA/FTA card sample container.

Method: Peripheral venipuncture / FTA card blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will draw venous blood using a sterile needle. For FTA card samples, a drop of blood from a heel-prick or finger-prick is applied to the card and allowed to dry.

Step 3

Report Delivery

No special precaution is required. You may resume normal activities immediately. The sample will be sent to the laboratory for NGS processing.

Timeline: Reports are usually available within 3 to 4 weeks after sample receipt at the laboratory. The turnaround time may vary if sample re-testing or family segregation analysis is required.

Patient Instructions

1
Before the Test:No fasting is required. Please bring the test requisition form and any prior clinical notes. A genetic counselling session is recommended to draw a pedigree chart and discuss the hereditary nature of Leigh syndrome.
2
During the Test:A simple blood sample collection or FTA card blood spot will be taken. The process is quick and painless.
3
After the Test:You will receive the report online in 3 to 4 weeks. A genetic counsellor may contact you for result interpretation or if additional counselling is needed.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the NDUFAF1 gene that are associated with Leigh syndrome. It confirms the genetic basis of disease in symptomatic individuals, assists in evaluating unexplained neurodevelopmental regression, and helps families understand recurrence risks and reproductive options.

How to Prepare

  • Use an EDTA vacutainer for whole blood sample.
  • For FTA card, apply one well-saturated blood spot and air-dry the card.
  • Label the sample tube/card with patient name, date of birth and collection date.
  • Samples should be transported at ambient temperature to the laboratory.
  • Avoid haemolysis and repeated freezing-thawing of extracted DNA.

Doctor's Notes

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

"Genetic testing for Leigh syndrome is invaluable for early diagnosis, recurrence risk counselling and family planning. An obstetrician-gynecologist may recommend this test when there is a history of mitochondrial disease in the family or when a child presents with unexplained neurodevelopmental regression."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeBlood: 2 mL in EDTA tube; FTA Card: 1 blood spot; Extracted DNA: as required by laboratory
ContainerEDTA Vacutainer or FTA Card
Collection MethodPeripheral venipuncture / FTA card blood spot

Sample Stability

Whole blood in EDTA: stable for 24-48 hours at room temperature
FTA card blood spot: stable for several weeks at room temperature
Extracted DNA: stable for long-term storage at -20°C
Sample Rejection Criteria:
  • Haemolysed or clotted blood sample
  • Insufficient blood volume or incomplete FTA spot
  • Improperly labelled or unlabelled sample
  • Sample in wrong container (e.g. plain tube without gel/EDTA)
  • Contaminated sample or leaking packaging

Understanding Your Results

The NDUFAF1 gene NGS test report should be interpreted by a clinical geneticist or neurologist experienced in mitochondrial disorders. Detection of a pathogenic or likely pathogenic variant in a symptomatic individual confirms the molecular diagnosis of NDUFAF1-related Leigh syndrome.
Pathogenic or likely pathogenic variant identified in NDUFAF1: Confirms the genetic diagnosis of NDUFAF1-related Leigh syndrome; management should include metabolic and neurological supportive care.
Variant of uncertain significance (VUS): The variant cannot be conclusively classified; further family studies or functional assays may be recommended.
No pathogenic variant identified: Does not rule out Leigh syndrome; other nuclear and mitochondrial genes should be considered.
If homozygous or compound heterozygous variants are found, autosomal recessive inheritance is confirmed. Parents should be offered carrier testing and genetic counselling.
⚠️ When to Consult a Doctor:

If the genetic test report identifies a pathogenic/likely pathogenic variant, or if symptoms persist despite a negative result, you should consult a neurologist or metabolic geneticist as soon as possible for further investigation, management and family counseling.

Limitations

  • ⚠This test analyzes the coding regions and splice junctions of the NDUFAF1 gene. It may not detect large deletions/duplications or deep intronic variants.
  • ⚠Variants of uncertain significance may require further family segregation studies and functional analysis.
  • ⚠A negative result does not exclude Leigh syndrome caused by variants in other nuclear or mitochondrial genes.
  • ⚠Interpretation requires clinical correlation and genetic counselling.

Risks & Considerations

  • ●Slight bruising or bleeding at the venipuncture site
  • ●Minimal risk of infection if wound is not kept clean
  • ●No genetic-testing-specific physical risks are associated with this test

Interfering Factors

  • ●Poor DNA quality or quantity from clotted or haemolysed blood
  • ●Insufficient FTA card blood spot
  • ●Sample contamination
  • ●Incomplete or inaccurate clinical history
  • ●Deep intronic or regulatory sequence variants not covered by standard NGS

Compare With Similar Tests

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Frequently Asked Questions

What is the cost of the NDUFAF1 Gene Leigh Syndrome NGS Genetic Test at DNA Labs India?
The test costs INR 20,000, which includes free home sample collection, NGS analysis, and a detailed clinical report in 3 to 4 weeks.
What sample type is accepted for this test?
The test can be performed on whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the NDUFAF1 NGS test?
No. Fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long does the NDUFAF1 Leigh syndrome genetic test take?
The report is usually available within 3 to 4 weeks after the sample reaches the laboratory.
What does the NDUFAF1 gene do?
The NDUFAF1 gene provides instructions for a protein involved in the assembly of mitochondrial complex I, a critical enzyme in energy production. Mutations in this gene can impair energy metabolism and cause Leigh syndrome.
Which symptoms are associated with Leigh syndrome caused by NDUFAF1 mutations?
Common symptoms include developmental delay, loss of previously acquired skills, poor coordination, seizures, hypotonia, lactic acidosis, optic atrophy and respiratory failure.
Why should I choose DNA Labs India for this genetic test?
DNA Labs India provides raw data files such as FASTQ and VCF along with the clinical report, allowing greater transparency and the possibility of future re-analysis.
Does this test require genetic counselling before testing?
Yes, a genetic counselling session is recommended to draw a pedigree chart, discuss inheritance, recurrence risk, and the implications of test results for family members.
What do the test results mean if no pathogenic variant is found?
A negative result in NDUFAF1 suggests that no pathogenic variant was found in this gene, but Leigh syndrome may still be caused by variants in other nuclear or mitochondrial genes. Further testing may be needed.
Can this test detect all types of NDUFAF1 mutations?
NGS detects single-nucleotide variants and small insertions/deletions in the coding regions and splice junctions of NDUFAF1. Large deletions/duplications and deep intronic variants may not be detected by this test.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection in major cities across India for online bookings.
Who should order this NDUFAF1 gene test?
This test is usually ordered by a neurologist, pediatric geneticist, or clinical geneticist for individuals with clinical features of Leigh syndrome or a family history of the condition.
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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