COX6B1 Gene Mitochondrial complex IV deficiency NGS Genetic Test
Short Name: COX6B1 Gene NGS Test
Also known as: COX6B1 Gene Sequencing Test, Cytochrome c Oxidase Subunit 6B1 Genetic Test, Mitochondrial Complex IV NGS Panel, COX6B1 Mutation Analysis, COX IV Deficiency DNA Test
COX6B1 Gene Mitochondrial complex IV 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 3 to 4 Weeks. 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 primary purpose of the COX6B1 Gene NGS Genetic Test is to identify pathogenic mutations in the COX6B1 gene that cause mitochondrial Complex IV deficiency. This test aids in confirming a clinical diagnosis, differentiating this condition from other mitochondrial or metabolic disorders, guiding treatment and management strategies, enabling informed family planning and genetic counselling, and identifying carriers within families. It is also used for prenatal or preconception carrier screening in families with a known COX6B1 mutation.
- Test Code
- 1729
- CPT Code
- 81479
- ICD Code
- E88.40
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
A genetic counselling session will be conducted to document the patient's clinical history and draw a pedigree chart of family members affected with mitochondrial complex IV deficiency. No fasting is required. Inform the laboratory about any recent blood transfusions.
Method: Venipuncture
Laboratory Analysis
A blood sample of 3-5 mL will be collected via venipuncture into an EDTA vacutainer, or a single drop of blood may be collected on an FTA card. The procedure is simple and relatively painless.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball or gauze for a few minutes. No specific post-collection restrictions are required. The sample will be transported to the testing laboratory under appropriate conditions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the COX6B1 Gene NGS Genetic Test is to identify pathogenic mutations in the COX6B1 gene that cause mitochondrial Complex IV deficiency. This test aids in confirming a clinical diagnosis, differentiating this condition from other mitochondrial or metabolic disorders, guiding treatment and management strategies, enabling informed family planning and genetic counselling, and identifying carriers within families. It is also used for prenatal or preconception carrier screening in families with a known COX6B1 mutation.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (purple top) vacutainer, OR provide a single blood drop on an FTA card, OR submit extracted DNA.
- Label the sample clearly with patient name, date of birth, and sample collection date.
- Store the sample at ambient room temperature (15-25°C) and transport to the laboratory within 48 hours.
- Avoid hemolyzed samples. Do not freeze whole blood samples.
- Include the completed requisition form with clinical history and family pedigree chart.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Mitochondrial complex IV deficiency caused by COX6B1 gene mutations can present with multisystem involvement. Early genetic diagnosis through NGS testing is essential for accurate counselling, family planning decisions, and guiding management. I recommend this test when there is clinical suspicion of mitochondrial disorder in affected individuals or when prenatal screening is indicated in families with a known history."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Sample collected in incorrect container (non-EDTA)
- Insufficient sample volume
- Sample contaminated or improperly labeled
- Sample received without requisition form or clinical history
Understanding Your Results
Pathogenic Variant Detected
One or more pathogenic (Class 5) or likely pathogenic (Class 4) variants were identified in the COX6B1 gene. This confirms a genetic diagnosis of mitochondrial complex IV deficiency due to COX6B1 mutation. Genetic counselling and management planning are recommended.
Variant of Uncertain Significance (VUS) Detected
A variant of uncertain significance (Class 3) was identified. The clinical significance of this variant is currently unknown. Further testing of family members, functional studies, or clinical correlation may be needed. Follow-up genetic counselling is recommended.
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the COX6B1 gene. This result does not completely exclude mitochondrial complex IV deficiency, as the condition may be caused by mutations in other genes or in mitochondrial DNA. Further clinical evaluation and additional genetic testing may be considered.
Consult a neurologist or clinical geneticist if you or your child experience unexplained developmental delay, progressive muscle weakness, seizures, breathing difficulties, or signs of multisystem involvement such as liver or heart dysfunction. If there is a known family history of mitochondrial complex IV deficiency or if a previous family member tested positive for COX6B1 mutations, seek genetic counselling for screening and family planning guidance.
Limitations
- ⚠This test analyzes only the COX6B1 gene and may not detect mutations in other genes associated with mitochondrial complex IV deficiency.
- ⚠Deep intronic variants and large structural rearrangusions may not be fully detected by standard NGS.
- ⚠Variants of Uncertain Significance (VUS) may be identified, requiring further evaluation.
- ⚠Results must be interpreted in conjunction with clinical findings, family history, and biochemical tests.
- ⚠This test does not detect mitochondrial DNA (mtDNA) mutations; a separate mtDNA analysis may be needed.
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very rare risk of infection at the puncture site
- ●Psychological impact of genetic test results; genetic counselling is recommended before and after testing
Interfering Factors
- ●Degraded or insufficient DNA quality in the submitted sample
- ●Contamination of the blood or DNA sample during collection or transport
- ●Recent blood transfusion may affect DNA analysis results
- ●Sample stored at incorrect temperature may compromise DNA integrity
Compare With Similar Tests
| Test | COX6B1 Gene Mitochondrial complex IV deficiency NGS Genetic Test | Whole Exome Sequencing (WES) | Mitochondrial DNA Sequencing | Respiratory Chain Enzyme Analysis |
|---|---|---|---|---|
| Comparison | COX6B1 Gene Mitochondrial complex IV deficiency NGS Genetic Test | WES analyzes all protein-coding genes (~20,000 genes) and may detect variants in genes other than COX6B1 that cause mitochondrial complex IV deficiency. The COX6B1 gene test is more targeted and cost-effective when there is a specific clinical suspicion. | Mitochondrial DNA sequencing detects mutations in the mitochondrial genome. The COX6B1 gene test targets a nuclear gene. Both may be needed for comprehensive evaluation of mitochondrial disorders. | This biochemical test measures the activity of Complex IV in tissue samples and can confirm reduced enzyme activity. However, it does not identify the specific genetic mutation. The COX6B1 NGS test provides the precise molecular diagnosis. |
Frequently Asked Questions
What is the COX6B1 Gene Mitochondrial Complex IV Deficiency NGS Genetic Test?
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How is the COX6B1 Gene NGS Genetic Test performed?
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What is the cost of the COX6B1 Gene NGS Genetic Test in India?
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What is mitochondrial complex IV deficiency?
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