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C1QA Gene C1q deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

C1QA Gene C1q deficiency NGS Genetic Test

Short Name: C1q Deficiency NGS Test

Also known as: C1q deficiency genetic test, C1QA gene mutation analysis, Complement C1q deficiency NGS test

C1QA Gene C1q deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the C1QA Gene C1q deficiency NGS Genetic Test is to identify mutations in the C1QA gene for accurate diagnosis of C1q deficiency, enabling early intervention, genetic counseling, and personalized treatment plans to manage immune system dysfunction and prevent severe infections.

Test Code
4860
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
NGS Technology
Step 1

Sample Collection

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with C1q deficiency.

Step 2

Laboratory Analysis

Standard blood draw or saliva collection procedure performed by a trained phlebotomist.

Step 3

Report Delivery

Sample is labeled, stored at ambient room temperature, and transported to the lab for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to assess family risk and prepare for testing.
2
During the Test:Blood or saliva sample collection is quick and minimally invasive, typically taking a few minutes.
3
After the Test:Results are available online in 3-4 weeks. Genetic counseling is provided to discuss findings and next steps.

About This Test

Who Should Get This Test

The purpose of the C1QA Gene C1q deficiency NGS Genetic Test is to identify mutations in the C1QA gene for accurate diagnosis of C1q deficiency, enabling early intervention, genetic counseling, and personalized treatment plans to manage immune system dysfunction and prevent severe infections.

How to Prepare

  • Fast if required, though not specified for this test
  • Avoid contamination of blood or saliva samples
  • Follow instructions for FTA card if used
  • Ensure proper labeling of samples

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for C1q deficiency is crucial for early diagnosis and management of immune disorders, especially in patients with recurrent infections or autoimmune symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Incorrect sample type
  • Missing patient information

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the C1QA gene. A positive result confirms C1q deficiency, while a negative result suggests no detectable mutations, but clinical correlation is essential.
📊

Normal

No pathogenic variants detected in the C1QA gene. Clinical symptoms may be due to other causes.

📊

Abnormal

Pathogenic variants detected, confirming C1q deficiency. Genetic counseling and specialist consultation recommended.

📊

Variant of Uncertain Significance

Genetic variant found but significance unknown. Further testing and family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience frequent infections, autoimmune symptoms, or have a family history of C1q deficiency. Early diagnosis can guide treatment and prevent complications.

Limitations

  • May not detect all genetic variants or mutations
  • Results require interpretation by a genetic counselor
  • Does not rule out other immune deficiencies
  • Limited to C1QA gene analysis only

Risks & Considerations

  • Minor bruising or discomfort at blood draw site
  • Rare risk of infection
  • Emotional impact of genetic results

Interfering Factors

  • Sample contamination
  • Degraded DNA quality
  • Incorrect sample storage
  • Recent blood transfusions

Frequently Asked Questions

What is C1q deficiency?
C1q deficiency is a rare genetic disorder caused by mutations in the C1QA gene, leading to immune system dysfunction and increased susceptibility to infections and autoimmune diseases.
How is C1q deficiency diagnosed?
Diagnosis is confirmed through genetic testing, such as the NGS Genetic Test for C1QA gene mutations, often accompanied by clinical evaluation and family history assessment.
What are the symptoms of C1q deficiency?
Symptoms include frequent respiratory and skin infections, autoimmune disorders like lupus, life-threatening infections, delayed growth, and neurological issues such as seizures.
What is the cost of the C1QA Gene C1q deficiency NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, which includes counseling and support services.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India for this test.
What sample types are accepted?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for this test?
No, fasting is not required for the C1QA Gene C1q deficiency NGS Genetic Test.
Who should consider this genetic test?
Individuals with symptoms of C1q deficiency, a family history of the condition, or recurrent infections and autoimmune disorders should consider testing.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the C1QA gene, confirming C1q deficiency. Genetic counseling is recommended for management.
Are there any risks associated with the test?
The test involves minimal risks, such as minor bruising from blood draw. Emotional impact of results is possible, so counseling is provided.
Why choose DNA Labs India for this test?
DNA Labs India offers accurate NGS testing, comprehensive counseling, free home collection, and results delivered online, ensuring reliable and accessible genetic testing services.
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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Your Data Privacy

Your medical data is protected under Indian law.

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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