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CCDC40 Gene Primary ciliary dyskinesia type 15 NGS Genetic Test

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CCDC40 Gene Primary ciliary dyskinesia type 15 NGS Genetic Test

Short Name: CCDC40 Gene PCD Type 15 NGS Test

Also known as: PCD Type 15 Genetic Test, CCDC40 Mutation Analysis

CCDC40 Gene Primary ciliary dyskinesia type 15 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

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to diagnose Primary Ciliary Dyskinesia Type 15 by detecting pathogenic mutations in the CCDC40 gene using next-generation sequencing technology.

Test Code
4770
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

Clinical history of patient with symptoms of PCD, such as chronic respiratory issues. A genetic counseling session to draw a pedigree chart of family members affected with PCD or related disorders.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture under sterile conditions.

Step 3

Report Delivery

Sample labeled and transported to the laboratory under appropriate conditions for DNA extraction and analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review recommended before testing.
2
During the Test:Blood sample collection and DNA extraction performed in the laboratory.
3
After the Test:Results interpreted by geneticists and reported with recommendations.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Primary Ciliary Dyskinesia Type 15 by detecting pathogenic mutations in the CCDC40 gene using next-generation sequencing technology.

How to Prepare

  • Ensure patient is relaxed
  • Clean the venipuncture site
  • Use aseptic technique
  • Label sample correctly

Doctor's Notes

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

"Early diagnosis of PCD Type 15 through genetic testing can guide management, prevent complications, and improve patient quality of life."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Blood: 2-8°C for 72 hours
Extracted DNA: -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CCDC40 gene associated with PCD Type 15.
Positive: Pathogenic variant detected, confirming diagnosis of PCD Type 15.
Negative: No pathogenic variants detected, but clinical correlation is needed; consider other PCD genes.
Variant of Uncertain Significance (VUS): Further testing and clinical evaluation recommended.
⚠️ When to Consult a Doctor:

If symptoms persist, genetic test is positive, or for family planning advice, consult a geneticist or pulmonologist.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires clinical correlation for diagnosis

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Frequently Asked Questions

What is CCDC40 Gene Primary Ciliary Dyskinesia Type 15?
It is a rare genetic disorder caused by mutations in the CCDC40 gene, leading to chronic respiratory issues due to impaired cilia function.
What are the symptoms of PCD Type 15?
Symptoms include chronic cough, recurrent respiratory infections, wheezing, nasal congestion, sinusitis, ear infections, shortness of breath, and infertility.
How is PCD Type 15 diagnosed?
Diagnosis involves clinical evaluation, tests like nasal nitric oxide measurement, and genetic testing such as the CCDC40 NGS Genetic Test.
What is the cost of the NGS Genetic Test for CCDC40 gene?
The test costs INR 20000 at DNA Labs India, with home collection available.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings 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 sample type is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is genetic counseling necessary before testing?
Yes, genetic counseling is recommended to understand the test implications and family risks.
Can this test be done for children?
Yes, the test is applicable for all ages, but pediatric consultation is advised.
What if the test result is positive?
A positive result confirms PCD Type 15; consult a geneticist or pulmonologist for management and family planning.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw; no significant health risks.
How accurate is the NGS Genetic Test for CCDC40 gene?
The test is highly accurate for detecting mutations in the CCDC40 gene, but clinical correlation is essential for diagnosis.
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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