UQCRQ Gene Mitochondrial complex III deficiency NGS Genetic Test
Short Name: UQCRQ Gene NGS Test
Also known as: UQCRQ Gene Sequencing Test, Mitochondrial Complex III Deficiency NGS Test, Ubiquinol-Cytochrome C Reductase Subunit Q Gene Test, UQCRQ Mutation Analysis, Complex III Deficiency Genetic Panel
UQCRQ Gene Mitochondrial complex III deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Bioinformatic Variant Analysis, Sanger Confirmation (if required) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample collection.. 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 the UQCRQ Gene Mitochondrial Complex III Deficiency NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the UQCRQ gene that cause mitochondrial complex III deficiency. This test aids in confirming a clinical diagnosis, differentiating this condition from other mitochondrial and metabolic disorders, determining inheritance patterns, guiding treatment and management strategies, facilitating carrier testing in family members, and supporting informed genetic counseling and reproductive planning.
- Test Code
- 1719
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample collection.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Bioinformatic Variant Analysis, Sanger Confirmation (if required)
Sample Collection
No fasting is required. Provide complete clinical history and family pedigree information. A pre-test genetic counseling session is recommended. Inform the lab of any recent blood transfusions. Maintain ambient room temperature for sample transport.
Method: Venipuncture
Laboratory Analysis
A blood sample of 3-5 mL is collected via standard venipuncture into an EDTA (lavender top) tube. Alternatively, a single drop of blood can be collected on an FTA card. The collection process takes approximately 5-10 minutes and is performed by a trained phlebotomist.
Report Delivery
The sample is labeled, stored at ambient room temperature, and transported to the DNA Labs India testing facility. Avoid freezing the sample. Results are typically available within 3-4 weeks of sample collection. The report will be delivered via Online Portal, Email, and WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the UQCRQ Gene Mitochondrial Complex III Deficiency NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the UQCRQ gene that cause mitochondrial complex III deficiency. This test aids in confirming a clinical diagnosis, differentiating this condition from other mitochondrial and metabolic disorders, determining inheritance patterns, guiding treatment and management strategies, facilitating carrier testing in family members, and supporting informed genetic counseling and reproductive planning.
How to Prepare
- Collect 3-5 mL peripheral blood in an EDTA (lavender top) vacutainer tube
- Alternatively, one drop of blood can be collected on an FTA card
- Label the sample tube clearly with patient name, date of birth, and unique identification number
- Store and transport the sample at ambient room temperature (15-30°C)
- Do not freeze the blood sample
- Avoid collecting sample within 7 days of a blood transfusion
- Ship the sample to DNA Labs India within 48 hours of collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Mitochondrial complex III deficiency due to UQCRQ gene mutations often presents with neuromuscular symptoms such as exercise intolerance, muscle weakness, seizures, and developmental delay. Early genetic diagnosis through NGS testing is essential for initiating supportive therapies, guiding prognosis, and enabling informed genetic counseling for families. I recommend this test for any patient with unexplained mitochondrial dysfunction, lactic acidosis, or multisystem neurological involvement suggestive of a respiratory chain disorder."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Sample collected in incorrect tube type (non-EDTA)
- Sample received without proper labeling or identification
- Sample collected more than 72 hours prior to receipt without extraction
- Sample contaminated or improperly stored (exposed to extreme temperatures)
Understanding Your Results
One or more pathogenic variants identified in the UQCRQ gene consistent with a diagnosis of mitochondrial complex III deficiency. Clinical correlation is advised. Genetic counseling and family member testing are recommended.
Action: Consult your neurologist or geneticist for comprehensive clinical management. Offer carrier testing to family members.
One or more likely pathogenic variants identified. Strong evidence supports disease association, but additional confirmatory testing or clinical correlation may be warranted.
Action: Discuss findings with your referring physician and genetic counselor. Consider family segregation analysis if possible.
A variant was identified whose clinical significance is currently unknown. This result alone is not diagnostic and should not be used to confirm or exclude disease.
Action: Clinical correlation with symptoms and biochemical findings is essential. Periodic re-evaluation of variant classification is recommended.
No pathogenic or likely pathogenic variants were identified in the UQCRQ gene. This result does not completely exclude mitochondrial complex III deficiency, as mutations in other genes may cause a similar phenotype.
Action: Discuss alternative diagnostic approaches with your physician, including whole exome sequencing or mitochondrial respiratory chain enzyme assays.
Consult your neurologist or clinical geneticist if your test results show pathogenic or likely pathogenic variants in the UQCRQ gene, if you have a family history of mitochondrial disease and wish to discuss carrier testing or reproductive options, or if clinical symptoms such as muscle weakness, seizures, developmental regression, or multisystem involvement persist despite a negative result, as further diagnostic evaluation may be warranted.
Limitations
- ⚠This test targets the coding regions and exon-intron boundaries of the UQCRQ gene only; deep intronic or regulatory region variants may not be detected
- ⚠Large deletions, duplications, or structural rearrangements may require additional testing such as MLPA or array CGH
- ⚠A negative result does not exclude mitochondrial complex III deficiency caused by mutations in other genes
- ⚠Some identified variants may be classified as Variants of Uncertain Significance (VUS) requiring further clinical correlation
- ⚠Results should always be interpreted in conjunction with clinical findings, family history, and biochemical markers
Risks & Considerations
- ●Minimal risk associated with blood collection, including slight bruising or discomfort at the venipuncture site
- ●Possibility of identifying Variants of Uncertain Significance (VUS) which may cause anxiety
- ●Risk of incidental findings in rare cases, though this test is targeted to the UQCRQ gene
- ●Emotional impact of a positive result; genetic counseling is recommended before and after testing
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample
- ●Contamination of the sample during collection or transport
- ●Blood transfusion within 7 days prior to sample collection may affect results
- ●Presence of large genomic rearrangements not detectable by standard NGS sequencing
Compare With Similar Tests
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| Comparison | UQCRQ Gene Mitochondrial complex III deficiency NGS Genetic Test |
Frequently Asked Questions
What is the UQCRQ Gene Mitochondrial Complex III Deficiency NGS Genetic Test?
What are the symptoms of UQCRQ gene mitochondrial complex III deficiency?
What sample is required for this genetic test?
How long does it take to receive the test results?
What is the cost of the UQCRQ Gene NGS Genetic Test?
Is genetic counseling recommended before taking this test?
Does DNA Labs India offer home sample collection for this test?
Can this test detect all mutations in the UQCRQ gene?
What should I do if the test result is positive for a pathogenic variant?
Is this test suitable for children and newborns?
Is this test covered under government health schemes like PMJAY or CGHS?
Why should I request Raw Data, FASTQ, and VCF files along with the clinical report?
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