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UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic Test

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UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic Test

Short Name: UQCC2 Gene NGS Test

Also known as: Mitochondrial Complex III Deficiency Nuclear Type 7, UQCC2-Related Mitochondrial Disorder

UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood, Extracted DNA, One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the UQCC2 gene for definitive diagnosis of mitochondrial complex III deficiency, nuclear type 7, aiding in clinical management and family planning.

Test Code
1724
Price
₹20,000
Sample Type
Blood, Extracted DNA, One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

No special preparation required, but genetic counseling is recommended prior to testing.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bruising. Resume normal activities.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and draw pedigree chart.
2
During the Test:Blood sample collection for DNA extraction and NGS analysis.
3
After the Test:Review results with genetic counselor and neurologist for next steps.

About This Test

Who Should Get This Test

To identify mutations in the UQCC2 gene for definitive diagnosis of mitochondrial complex III deficiency, nuclear type 7, aiding in clinical management and family planning.

How to Prepare

  • Ensure sample is collected in EDTA tube or FTA card as specified
  • Label sample correctly with patient details
  • Store at ambient temperature if not processed immediately

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for UQCC2 mutations is essential for confirming diagnosis and guiding management strategies for mitochondrial disorders, which often present with neurological symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, One drop Blood on FTA Card
Collection MethodVenipuncture
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic variants in the UQCC2 gene. Genetic counseling is essential to understand implications.
📊

No pathogenic variants detected

Negative result; does not rule out other genetic causes. Clinical correlation recommended.

📊

Pathogenic variant detected

Confirmatory diagnosis of UQCC2-related mitochondrial complex III deficiency. Requires specialist follow-up.

📊

Variant of uncertain significance (VUS)

Further testing or family studies may be needed. Genetic counseling advised.

⚠️ When to Consult a Doctor:

If symptoms such as muscle weakness, seizures, or developmental delays persist or worsen, consult a neurologist or geneticist for comprehensive evaluation and management.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical presentation

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestUQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic TestMitochondrial DNA SequencingNDUFS1 Gene TestWhole Exome Sequencing
ComparisonUQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic Test

Frequently Asked Questions

What is the UQCC2 Gene NGS Genetic Test?
It is a Next-Generation Sequencing test to detect mutations in the UQCC2 gene associated with mitochondrial complex III deficiency, nuclear type 7.
What is the cost of this test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
What samples are required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available in 3 to 4 weeks from sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home collection for this test across India.
Who should consider this test?
Individuals with symptoms like muscle weakness, developmental delay, seizures, or family history of mitochondrial disorders.
How accurate is the NGS Genetic Test?
The test uses advanced NGS technology for high accuracy, but results should be interpreted by a genetic counselor.
What do the test results mean?
Results indicate presence or absence of pathogenic UQCC2 variants. Genetic counseling is recommended for interpretation.
Are there any risks associated with the test?
The blood draw has minimal risks like bruising; emotional impact may require counseling support.
Can insurance cover this test?
Coverage depends on insurance plans; check with your provider. DNA Labs India offers transparent pricing.
How should I prepare for the test?
No special preparation is needed, but genetic counseling is advised to understand the testing process.
What is mitochondrial complex III deficiency?
It is a genetic disorder affecting mitochondrial function, leading to energy production issues and various symptoms.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference 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.

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✓ 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.

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