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NDUFAF6 Gene Leigh syndrome NGS Genetic Test

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NDUFAF6 Gene Leigh syndrome NGS Genetic Test

Short Name: NDUFAF6 NGS Genetic Test

Also known as: NDUFAF6 Gene Mutation Analysis, Leigh Syndrome NDUFAF6 Genetic Test, Complex I Deficiency NDUFAF6 Gene Test, NDUFAF6 Sequencing Test

NDUFAF6 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 in 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

This NGS genetic test is used to identify disease-causing variants in the NDUFAF6 gene, confirm a clinical suspicion of NDUFAF6-related Leigh syndrome, assist in genetic counselling, and guide reproductive and family planning decisions.

Test Code
4174
ICD Code
G31.82
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports will be delivered in 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is needed and fasting is not required. A genetic counselling session is required to draw a pedigree chart of family members affected with NDUFAF6 gene-related Leigh syndrome. Please provide the clinical history and any previous investigation reports.

Method: Peripheral venipuncture / FTA blood spot / Extracted DNA submission

Step 2

Laboratory Analysis

A small blood sample is collected by venipuncture. If an FTA card is used, one drop of blood is placed on the card and allowed to air dry. For extracted DNA, the laboratory will specify the required quantity and quality.

Step 3

Report Delivery

There are no restrictions after sample collection. The sample is sent to the laboratory for NGS processing. You will receive the report in 3 to 4 weeks and a genetic counselling session is recommended to discuss results.

Timeline: Reports will be delivered in 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is needed and fasting is not required. A genetic counselling session is required to draw a pedigree chart of family members affected with NDUFAF6 gene-related Leigh syndrome. Please provide the clinical history and any previous investigation reports.
2
During the Test:A small blood sample is drawn by venipuncture, or one drop of blood is placed on an FTA card. The procedure is quick and usually takes only a few minutes.
3
After the Test:No post-test restrictions. You can resume normal activities. The laboratory will process the sample using NGS, and the report is expected within 3 to 4 weeks. A follow-up genetic counselling session is recommended.

About This Test

Who Should Get This Test

This NGS genetic test is used to identify disease-causing variants in the NDUFAF6 gene, confirm a clinical suspicion of NDUFAF6-related Leigh syndrome, assist in genetic counselling, and guide reproductive and family planning decisions.

How to Prepare

  • Blood should be collected in an EDTA vacutainer.
  • FTA card spots should be completely air dried before packing.
  • Extracted DNA should be labelled clearly with the patient identifier.
  • Complete the referral form with clinical history and written informed consent.
  • Genetic counselling and family pedigree documentation must be completed before testing.

Doctor's Notes

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

"Leigh syndrome can present with non-specific neurological symptoms in infancy. A definitive genetic diagnosis is essential for recurrence risk counselling and family planning. The counsellor should explain the implications of both positive and negative results."

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 requirement
ContainerEDTA vacutainer or FTA card
Collection MethodPeripheral venipuncture / FTA blood spot / Extracted DNA submission

Sample Stability

EDTA blood: 2-8°C for up to 72 hours
Extracted DNA: -20°C for long-term storage
FTA card: Room temperature for several weeks
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Inadequate quantity of extracted DNA
  • Incorrectly labelled or unlabelled sample
  • Missing clinical history, consent, or genetic counselling documentation

Understanding Your Results

Results should be interpreted by a qualified clinical geneticist in the context of clinical findings, family history, and additional metabolic or imaging investigations.
📊

No pathogenic variant detected

Negative result. Does not exclude NDUFAF6-related Leigh syndrome. Other nuclear or mitochondrial genes may still be causative.

📊

Pathogenic variant detected in NDUFAF6

Molecular confirmation of NDUFAF6-related Leigh syndrome. Genetic counselling and segregation analysis are recommended.

📊

Likely pathogenic variant detected in NDUFAF6

Suggestive but not fully diagnostic; clinical correlation and family segregation studies are advised.

📊

Variant of uncertain significance (VUS) detected

Insufficient evidence to confirm or exclude disease. Further testing of family members and functional studies may be needed.

📊

Benign or likely benign variant detected

Not considered to be the cause of the clinical presentation.

⚠️ When to Consult a Doctor:

If your child or family member has symptoms such as developmental delay, hypotonia, seizures, unexplained lactic acidosis, respiratory difficulty, optic atrophy, or encephalopathy, consult a neurologist and clinical geneticist. If you have a family history of NDUFAF6-related Leigh syndrome, seek genetic counselling before or after testing.

Limitations

  • ⚠This targeted NGS test analyses the NDUFAF6 gene only.
  • ⚠It may not detect large deletions, duplications, deep intronic variants, or mitochondrial DNA variants.
  • ⚠A negative result does not completely rule out Leigh syndrome or other mitochondrial disorders.
  • ⚠Variants of uncertain significance may require further family studies and functional analysis.
  • ⚠Results must be interpreted by a qualified clinical geneticist in the context of the full clinical picture.

Risks & Considerations

  • ●Minor pain, bruising, or bleeding at the blood collection site
  • ●Very low risk of infection with venipuncture
  • ●No significant physical risk with FTA card collection
  • ●Possible psychological or emotional impact from genetic results
  • ●Potential implications for biological family members

Interfering Factors

  • ●Inadequate quantity or poor quality of extracted DNA
  • ●Sample contamination during collection or processing
  • ●Sample mix-up or incorrect labeling
  • ●Incomplete clinical history or pedigree information

Compare With Similar Tests

TestNDUFAF6 Gene Leigh syndrome NGS Genetic TestNDUFAF6 Targeted NGS Test (This Test)NDUFAF6 Sanger SequencingLeigh Syndrome Comprehensive NGS PanelWhole Exome Sequencing (WES)
ComparisonNDUFAF6 Gene Leigh syndrome NGS Genetic Test

Frequently Asked Questions

What is the NDUFAF6 gene?
NDUFAF6 provides instructions for making a protein involved in assembling mitochondrial complex I. Mutations in this gene can impair complex I function and cause Leigh syndrome.
What is Leigh syndrome?
Leigh syndrome is a rare progressive neurological disorder caused by mitochondrial dysfunction. It usually appears in infancy or early childhood and can cause developmental delay, hypotonia, seizures, respiratory abnormalities, optic atrophy, and lactic acidosis.
Who should undergo this NDUFAF6 gene NGS genetic test?
This test is recommended for individuals with clinical features of Leigh syndrome, unexplained encephalopathy, complex I deficiency, or a family history of NDUFAF6-related mitochondrial disease.
What type of sample is required?
Samples accepted include blood in an EDTA tube, extracted DNA, or one drop of blood placed on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long will the report take?
The test report is typically available within 3 to 4 weeks of sample receipt.
What is the total cost of this test?
The cost of the NDUFAF6 Gene Leigh Syndrome NGS Genetic Test at DNA Labs India is INR 20,000. Free home sample collection is available for online bookings in selected cities.
What does a positive result mean?
A pathogenic or likely pathogenic variant in NDUFAF6 provides molecular evidence supporting a diagnosis of NDUFAF6-related Leigh syndrome. The result should be correlated with clinical symptoms and reviewed by a clinical geneticist.
What does a negative result mean?
A negative result does not completely rule out Leigh syndrome. It only excludes variants that can be detected by this targeted NGS test in the NDUFAF6 gene. Other mitochondrial or nuclear gene causes should be explored if clinical suspicion remains high.
Will I receive raw data and bioinformatics files?
Yes, DNA Labs India provides raw data, FASTQ, and VCF files along with the conclusive clinical report for this test.
Can this test help with prenatal or family planning decisions?
It can identify the genetic cause and allow reproductive risk counselling. Prenatal testing or preimplantation genetic testing should be discussed with a clinical geneticist.
Does health insurance cover this genetic test?
Insurance coverage is variable. PMJAY, CGHS, ECHS, and ESIC generally do not routinely cover this test. Private insurers may cover part or all of the cost depending on the policy, so please verify 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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