TACO1 Gene Leigh syndrome due to the mitochondrial complex IV deficiency NGS Genetic Test
Short Name: TACO1 Gene Leigh Syndrome NGS
Also known as: TACO1 Gene Mutation Test, Mitochondrial Complex IV Deficiency NGS Panel, Leigh Syndrome Genetic Test
TACO1 Gene Leigh syndrome due to the mitochondrial complex IV deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing for Variant Confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued within 3 to 4 weeks after the sample is received by the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the TACO1 gene associated with Leigh syndrome due to mitochondrial complex IV deficiency, thereby confirming the clinical diagnosis and enabling family counseling and management planning.
- Test Code
- 4185
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3 to 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing for Variant Confirmation
Sample Collection
No special preparation is required. Fasting is not needed. Please carry any previous medical records, brain imaging (MRI) results, and a referral note. A genetic counseling session is recommended to draw a family pedigree.
Method: Venipuncture / FTA Card Spot
Laboratory Analysis
A simple blood sample will be drawn by a trained phlebotomist, or an FTA card blood spot will be collected. No anesthesia is required. The procedure takes a few minutes.
Report Delivery
No restrictions. You may resume normal activities immediately. The collected sample will be transported to the laboratory at ambient temperature.
Timeline: Reports are issued within 3 to 4 weeks after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the TACO1 gene associated with Leigh syndrome due to mitochondrial complex IV deficiency, thereby confirming the clinical diagnosis and enabling family counseling and management planning.
How to Prepare
- Use EDTA vacutainer for blood sample collection
- If FTA card is used, ensure the blood spot is fully saturated and dried
- Label the sample clearly with the patient's name, date, and time
- Do not freeze whole blood samples
- For extracted DNA, provide at least 500 ng of high-quality DNA
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counseling and a thorough family history are essential when a mitochondrial disorder such as Leigh syndrome is suspected. This test can provide valuable information for recurrence risk and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample quantity
- Improperly labeled sample
- Sample received after prolonged transit delay without proper preservation
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of TACO1-related Leigh syndrome. Genetic counseling and family testing are recommended.
No pathogenic variant detected
Does not exclude Leigh syndrome caused by mutations in other genes or mitochondrial DNA variants. Further evaluation may be needed.
Variant of uncertain significance detected
Additional testing and family segregation studies may be required to determine clinical significance.
If you or your child exhibit any of the signs of Leigh syndrome (delayed milestones, muscle weakness, seizures, breathing difficulty, swallowing problems), consult a neurologist or pediatrician immediately. Genetic testing should be performed under medical guidance.
Limitations
- ⚠This test detects variants only in the TACO1 gene covered by the NGS panel
- ⚠Variants in deep intronic or regulatory regions may not be identified
- ⚠This test does not rule out Leigh syndrome caused by mutations in other nuclear or mitochondrial genes
- ⚠Results should be correlated with clinical findings and biochemical assays
- ⚠Variants of unknown significance may require additional segregation analysis
Risks & Considerations
- ●Mild pain or bruising at the needle site
- ●Rare hematoma formation
- ●Minimal risk of infection at the venipuncture site
Interfering Factors
- ●Low DNA quantity or quality may affect NGS performance
- ●Sample contamination can cause false results
- ●Improper storage or transport delays may degrade DNA
- ●Use of anticoagulants other than EDTA may interfere with PCR
Compare With Similar Tests
| Test | TACO1 Gene Leigh syndrome due to the mitochondrial complex IV deficiency NGS Genetic Test | ||
|---|---|---|---|
| Comparison | TACO1 Gene Leigh syndrome due to the mitochondrial complex IV deficiency NGS Genetic Test |
Frequently Asked Questions
What is the TACO1 gene?
What is Leigh syndrome?
Who should undergo this TACO1 NGS genetic test?
What is the cost of the TACO1 Leigh syndrome genetic test at DNA Labs India?
What type of sample is needed for the TACO1 genetic test?
Is fasting required before the blood sample collection?
How long will the TACO1 NGS test take to report?
Does the cost include home sample collection?
What does the test report contain? Do I get raw data?
Can this test be performed on an FTA card?
Is genetic counseling needed before taking this test?
What is the difference between this test and a regular Leigh syndrome genetic panel?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.