FOXRED1 Gene Mitochondrial complex I deficiency NGS Genetic Test
Short Name: FOXRED1 NGS Test
Also known as: Mitochondrial Complex I Deficiency due to FOXRED1, FOXRED1-Related Mitochondrial Complex I Deficiency, FOXRED1-Associated Complex I Deficiency
FOXRED1 Gene Mitochondrial complex I deficiency 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 in 3 to 4 weeks from the date 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
This NGS test is ordered to detect sequence variants in FOXRED1 gene and help confirm the clinical diagnosis of FOXRED1-related mitochondrial complex I deficiency. It also supports carrier testing in at-risk family members and provides information for recurrence-risk counseling.
- Test Code
- 4309
- CPT Code
- Not specified
- ICD Code
- Not specified
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually available in 3 to 4 weeks from the date the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please bring any previous biochemical, muscle biopsy, or genetic test reports and provide a complete clinical history.
Method: Blood draw / Buccal swab / FTA card dried blood spot
Laboratory Analysis
A qualified healthcare professional will collect a blood sample using a sterile EDTA tube, a buccal swab, or an FTA card dried blood spot, depending on the chosen sample type.
Report Delivery
No activity restrictions. Your sample will be transported to the laboratory for NGS analysis; results are expected in 3 to 4 weeks.
Timeline: Reports are usually available in 3 to 4 weeks from the date the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
This NGS test is ordered to detect sequence variants in FOXRED1 gene and help confirm the clinical diagnosis of FOXRED1-related mitochondrial complex I deficiency. It also supports carrier testing in at-risk family members and provides information for recurrence-risk counseling.
How to Prepare
- For blood sample: Use EDTA tube and do not freeze
- For FTA card: Apply one drop of blood to the card and air dry before packing
- For extracted DNA: Ensure DNA is stored in a sterile, labelled tube and shipped as per laboratory instructions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A thorough three-generation pedigree is important before FOXRED1 testing. If a pathogenic variant is identified, family cascade testing and reproductive counseling should be discussed."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or severely hemolyzed blood sample
- Incorrectly labelled sample
- Insufficient sample quantity
- Sample leaking from container
- Improper storage or extended transport time
Understanding Your Results
Pathogenic variant detected
Consistent with FOXRED1-related mitochondrial complex I deficiency.
Likely pathogenic variant detected
Consistent with clinical suspicion; further family testing may be recommended.
No pathogenic variant detected
Does not exclude mitochondrial complex I deficiency; other genetic causes may be present.
Variant of uncertain significance (VUS)
Cannot confirm or exclude diagnosis; additional analyses and genetic counseling advised.
If the test identifies a pathogenic or likely pathogenic FOXRED1 variant, or if a variant of uncertain significance is reported, consult a clinical geneticist or mitochondrial disease specialist for personalized risk assessment and management. If symptoms persist despite a negative result, additional metabolic or genetic evaluations should be considered.
Limitations
- ⚠This targeted NGS test analyzes the FOXRED1 nuclear gene and does not analyze mitochondrial DNA variants
- ⚠Structural variants such as large deletions or duplications may require additional testing
- ⚠A variant of uncertain significance may require further family segregation studies
- ⚠This test is not a substitute for biochemical complex I enzyme assay or full clinical evaluation
Risks & Considerations
- ●Mild pain or bruising at the blood collection site
- ●Dizziness during blood draw
- ●Rare risk of infection at the collection site
Interfering Factors
- ●Poor DNA quality due to improper storage or transportation
- ●Contamination or labelling errors during sample collection
- ●Insufficient clinical information or pedigree for interpretation
- ●Large genomic rearrangements that may not be detected by standard NGS bioinformatics
Compare With Similar Tests
| Test | FOXRED1 Gene Mitochondrial complex I deficiency NGS Genetic Test | FOXRED1 Gene Sanger Sequencing | Mitochondrial Complex I Enzyme Assay |
|---|---|---|---|
| Comparison | FOXRED1 Gene Mitochondrial complex I deficiency NGS Genetic Test |
Frequently Asked Questions
What is FOXRED1 Gene Mitochondrial Complex I Deficiency NGS Genetic Test?
What is the cost of the FOXRED1 NGS genetic test at DNA Labs India?
Is fasting required before the test?
What sample types are accepted?
How long does it take to get the report?
Why is genetic counseling advised before this test?
Can this test detect all mitochondrial disorders?
What is the role of the FOXRED1 gene?
Does DNA Labs India provide raw data files with the report?
Who should take this test?
What does a negative result mean?
Is home sample collection available?
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