FOXRED1 Gene Leigh syndrome NGS Genetic Test
Short Name: FOXRED1 Leigh Syndrome NGS
Also known as: FOXRED1 Gene Sequencing, FOXRED1 Leigh Syndrome NGS Panel, FOXRED1 Mitochondrial Complex I Deficiency Genetic Test
FOXRED1 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 issued within 3 to 4 weeks after the sample reaches 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
Targeted NGS analysis of the FOXRED1 gene to identify pathogenic variants associated with Leigh syndrome and mitochondrial complex I deficiency, enabling molecular confirmation and genetic counselling.
- Test Code
- 4181
- ICD Code
- G31.81
- 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 reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. One genetic counselling session is recommended before testing to collect family history and obtain informed consent.
Method: Peripheral venipuncture or one-drop blood spot on FTA card
Laboratory Analysis
A peripheral blood sample, extracted DNA sample, or one-drop blood FTA card is collected by a trained professional.
Report Delivery
No special precautions are needed. The sample will be transported to the laboratory for NGS analysis.
Timeline: Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
Targeted NGS analysis of the FOXRED1 gene to identify pathogenic variants associated with Leigh syndrome and mitochondrial complex I deficiency, enabling molecular confirmation and genetic counselling.
How to Prepare
- No fasting required before sample collection
- Collect whole blood in an EDTA tube, or provide extracted DNA, or collect one drop of blood on an FTA card
- If providing extracted DNA, ensure quantity and purity meet laboratory QC requirements
- Attach the test requisition form with clinical history and family pedigree
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"NGS testing for FOXRED1 should be ordered when Leigh syndrome is suspected clinically or when mitochondrial complex I deficiency has been demonstrated. Results must be interpreted in the context of neuroimaging, metabolic markers, and family history."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Inadequate DNA quantity or quality
- Unlabeled or mismatched sample
- FTA card without sufficient blood spot
Understanding Your Results
Pathogenic or likely pathogenic variant identified
Supports a diagnosis of FOXRED1-related Leigh syndrome. Confirmatory testing of at-risk family members is recommended.
No pathogenic/likely pathogenic variant identified
Reduces the likelihood of FOXRED1-related disease but does not exclude Leigh syndrome caused by variants in other genes.
Variant of uncertain significance (VUS) identified
Insufficient evidence to confirm or exclude the diagnosis. Additional family studies or functional assays may be required.
Benign variant identified
No clinical significance.
Consult a neurologist or clinical geneticist if the result is positive, if a variant of uncertain significance is reported, or if the patient develops seizures, breathing difficulty, or metabolic decompensation.
Limitations
- ⚠This test covers only the FOXRED1 gene; mutations in other nuclear or mitochondrial genes causing Leigh syndrome may not be detected.
- ⚠NGS may not reliably detect large structural rearrangements, deep intronic variants, or certain repeat expansions.
- ⚠Variants of uncertain significance may require additional family testing and functional studies.
- ⚠This test does not directly measure mitochondrial enzyme activity and is not intended to assess mtDNA heteroplasmy.
Risks & Considerations
- ●Minor pain or bruising at the venipuncture site
- ●Dizziness during blood collection
- ●Very rare risk of infection
Interfering Factors
- ●Degraded DNA or poor sample quality
- ●PCR amplification bias or low target coverage
- ●Sample mix-up or labeling error
- ●Contamination with another person's DNA
- ●Incomplete clinical details affecting variant classification
Compare With Similar Tests
| Test | FOXRED1 Gene Leigh syndrome NGS Genetic Test | Leigh Syndrome NGS Panel | Mitochondrial DNA Full Genome Sequencing | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | FOXRED1 Gene Leigh syndrome NGS Genetic Test |
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.