UQCRC2 Gene Mitochondrial complex III deficiency NGS Genetic Test
Short Name: UQCRC2 NGS Test
Also known as: UQCRC2 Gene Mutation Analysis, Mitochondrial Complex III Deficiency Genetic Test, NGS Mitochondrial Gene Panel (UQCRC2)
UQCRC2 Gene Mitochondrial complex III deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood, Extracted DNA, or Dried Blood on FTA Card samples. Results in Reports are available within 3 to 4 weeks after the sample is received at the laboratory. You will be notified by SMS/email.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic mutations in the UQCRC2 gene associated with mitochondrial complex III deficiency, confirm a clinical diagnosis, guide medical management, and provide accurate recurrence risk information for family planning.
- Test Code
- 4315
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, or Dried Blood on FTA Card
- Result Time
- Reports are available within 3 to 4 weeks after the sample is received at the laboratory. You will be notified by SMS/email.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation such as fasting is required. A valid consent document must be signed. The patient is encouraged to undergo a genetic counseling session before sample collection to discuss the implications of the test.
Method: Venipuncture or FTA card spot
Laboratory Analysis
A blood sample of approximately 3-5 ml is collected aseptically from a vein in an EDTA vacutainer. Alternatively, a few drops of blood can be spotted onto an FTA card, or extracted DNA may be submitted if already available.
Report Delivery
Once collected, the sample should be sent to the laboratory at ambient temperature. FTA cards are stable at room temperature for several days. The laboratory will process the sample using NGS and provide the report in 3 to 4 weeks.
Timeline: Reports are available within 3 to 4 weeks after the sample is received at the laboratory. You will be notified by SMS/email.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic mutations in the UQCRC2 gene associated with mitochondrial complex III deficiency, confirm a clinical diagnosis, guide medical management, and provide accurate recurrence risk information for family planning.
How to Prepare
- Ensure the patient's identity is verified and the sample is labeled correctly.
- Use an EDTA vacutainer for whole blood collection.
- For FTA card collection, apply one drop of blood onto each circle and air dry completely.
- Extracted DNA should be shipped in appropriate storage buffer at 2-8°C.
- Do not freeze whole blood samples; store at room temperature and send to the lab promptly.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Mitochondrial disorders often present with multisystem manifestations and a significant burden for affected families. In the context of reproductive planning, identification of a UQCRC2 pathogenic variant allows accurate genetic counseling regarding recurrence risk and reproductive options. I recommend that all patients receiving this test undergo pre- and post-test counseling with a clinical geneticist to ensure a thorough understanding of the implications for both the patient and family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample quantity
- Sample leaking in transit
- Incorrect or missing label
- Sample received without signed consent form
- Sample received in a heparinized tube (heparin can inhibit PCR)
Understanding Your Results
Confirms molecular diagnosis of mitochondrial complex III deficiency.
Highly suspicious variant; clinical correlation advised; segregation testing may be helpful.
UQCRC2-related disease is unlikely, but other mitochondrial genes may still be involved.
Clinical relevance is unknown; further family studies or functional assays may be required.
If you have symptoms compatible with mitochondrial disease, or if you have a known family history of UQCRC2 mutation, please consult a neurologist, clinical geneticist, or metabolic physician for evaluation and appropriate testing.
Limitations
- ⚠This targeted test analyzes only the UQCRC2 gene and does not detect mutations in other genes causing mitochondrial complex III deficiency.
- ⚠Deep intronic variants, large structural rearrangements, and promoter variants may not be identified by standard NGS approach.
- ⚠Variants of uncertain significance (VUS) may need additional family segregation studies for proper classification.
Risks & Considerations
- ●Minimal risk of bruising at the needle site
- ●Mild discomfort during blood draw
- ●Very rare possibility of infection at the puncture site
Interfering Factors
- ●Maternal cell contamination in fetal or blood samples
- ●Inadequate DNA quantity or quality
- ●Recent blood transfusion within the past 2 weeks
- ●Sample mix-up or incorrect labeling
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Frequently Asked Questions
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