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CCDC114 Gene Primary ciliary dyskinesia type 20 NGS Genetic Test

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CCDC114 Gene Primary ciliary dyskinesia type 20 NGS Genetic Test

Short Name: CCDC114 PCD Type 20 NGS Test

Also known as: Primary Ciliary Dyskinesia Type 20, PCD Type 20, Immootile Cilia Syndrome Type 20

CCDC114 Gene Primary ciliary dyskinesia type 20 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.

Next-Generation SequencingAll 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 detect mutations in the CCDC114 gene for the diagnosis of primary ciliary dyskinesia type 20, enabling accurate clinical management and genetic counseling.

Test Code
4778
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)
Step 1

Sample Collection

Provide detailed clinical history and family pedigree. No specific preparation is required, but ensure proper identification.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist. For FTA card, a finger-prick blood drop is collected.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as instructed for stability.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a healthcare provider to discuss symptoms and family history. Genetic counseling may be recommended prior to testing.
2
During the Test:The test involves a simple blood draw or DNA sample collection. The process is quick and minimally invasive.
3
After the Test:Results are available in 3-4 weeks. Post-test counseling will help interpret findings and plan next steps.

About This Test

Who Should Get This Test

To detect mutations in the CCDC114 gene for the diagnosis of primary ciliary dyskinesia type 20, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Ensure patient identification is accurate
  • Use sterile collection tubes
  • Avoid hemolyzed or contaminated samples
  • Label samples correctly with patient details

Doctor's Notes

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

"Genetic testing for PCD is crucial for accurate diagnosis, guiding treatment, and informing family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Room temperature24 hours
Refrigerated (2-8°C)7 days
Frozen (-20°C)Long-term storage
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Incorrect sample type or labeling
  • Samples exceeding stability period

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CCDC114 gene, which is associated with primary ciliary dyskinesia type 20.
📊

Positive for pathogenic variant

Confirms diagnosis of PCD type 20. Genetic counseling is recommended for family planning and management.

📊

Negative for pathogenic variant

No mutations detected in CCDC114 gene. Clinical correlation is advised, as PCD may involve other genes.

📊

Variant of uncertain significance

Further testing or family studies may be needed. Consult a geneticist for guidance.

⚠️ When to Consult a Doctor:

If symptoms of PCD persist, if there is a family history of the disorder, or if genetic test results are positive or uncertain, consult a geneticist or ENT specialist for comprehensive evaluation and management.

Limitations

  • ⚠May not detect all genetic variants or mutations
  • ⚠Results require correlation with clinical findings
  • ⚠Not a standalone diagnostic test for all PCD types

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results
  • ●No significant physical risks associated with the test

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample handling or storage

Compare With Similar Tests

TestCCDC114 Gene Primary ciliary dyskinesia type 20 NGS Genetic TestHigh-Speed Video MicroscopyNasal Nitric Oxide TestFull PCD Gene Panel Test
ComparisonCCDC114 Gene Primary ciliary dyskinesia type 20 NGS Genetic Test

Frequently Asked Questions

What is the CCDC114 Gene Primary Ciliary Dyskinesia Type 20 NGS Genetic Test?
This test uses next-generation sequencing to analyze the CCDC114 gene for mutations that cause primary ciliary dyskinesia type 20, a rare genetic disorder affecting cilia function.
Why is this test important for PCD diagnosis?
It provides a definitive genetic diagnosis, helping to confirm PCD type 20, guide treatment, and inform family planning, especially when clinical symptoms are present.
What are the common symptoms of PCD type 20?
Symptoms include chronic cough, recurrent sinus infections, wheezing, ear infections, hearing loss, nasal polyps, and fertility problems; heart defects may occur in some cases.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology to detect mutations in the CCDC114 gene.
What is the cost of this test in India?
The test costs INR 20000 at DNA Labs India, with home sample collection available across many cities.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic variant in the CCDC114 gene, confirming a diagnosis of PCD type 20. Genetic counseling is recommended.
What does a negative test result mean?
A negative result means no pathogenic variants were detected in the CCDC114 gene. However, PCD may be caused by other genes, so clinical correlation is advised.
Are there any risks associated with this genetic test?
The test involves minimal risks from blood draw, such as bruising. There may be psychological implications of the results, which are addressed through counseling.
How should I prepare for the test?
No special preparation is needed, but provide accurate clinical history and family information. Genetic counseling may be beneficial before testing.
Where can I get this test done?
DNA Labs India provides this test nationwide with home collection services. You can book online or visit their centers in major cities like Mumbai, Delhi, Bangalore, and others.
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.

LIMS Integration

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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