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CCDC65 Gene Primary ciliary dyskinesia type 27 NGS Genetic Test

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CCDC65 Gene Primary ciliary dyskinesia type 27 NGS Genetic Test

Short Name: CCDC65 PCD Type 27 NGS Test

Also known as: PCD Type 27 Genetic Test, CCDC65 Mutation Analysis, Primary Ciliary Dyskinesia Type 27 NGS

CCDC65 Gene Primary ciliary dyskinesia type 27 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

The purpose of this test is to detect pathogenic mutations in the CCDC65 gene to confirm a diagnosis of primary ciliary dyskinesia type 27, guide clinical management, and facilitate genetic counseling for affected individuals and their families.

Test Code
4783
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

No specific preparation required. Provide clinical history and family pedigree if available.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as per instructions for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical and family history. No fasting required.
2
During the Test:Blood sample collection takes a few minutes. Minimal discomfort.
3
After the Test:Resume normal activities. Report delivery in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic mutations in the CCDC65 gene to confirm a diagnosis of primary ciliary dyskinesia type 27, guide clinical management, and facilitate genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure proper labeling of sample
  • Use sterile collection tubes
  • Transport sample at ambient room temperature
  • Avoid hemolysis during collection

Doctor's Notes

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

"Early genetic diagnosis of PCD type 27 through NGS testing can guide personalized management, family counseling, and prevent recurrent respiratory complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or container

Understanding Your Results

Results indicate the presence or absence of mutations in the CCDC65 gene. Positive results confirm PCD type 27, while negative results may require further testing if clinical suspicion remains high.
📊

Negative

No pathogenic variants detected in CCDC65 gene. Consider other genetic causes or clinical evaluation.

📊

Positive

Pathogenic variant(s) identified, confirming diagnosis of PCD type 27. Genetic counseling recommended.

📊

Variant of Uncertain Significance (VUS)

Genetic variant found but clinical significance unknown. Follow-up testing and clinical correlation advised.

⚠️ When to Consult a Doctor:

Consult a geneticist or pulmonologist if symptoms persist, for result interpretation, or for family planning advice after a positive test.

Limitations

  • ⚠May not detect all genetic variants or mutations in non-coding regions
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠False negatives possible in rare cases

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection at puncture site

Interfering Factors

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

Compare With Similar Tests

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ComparisonCCDC65 Gene Primary ciliary dyskinesia type 27 NGS Genetic Test

Frequently Asked Questions

What is the CCDC65 Gene PCD Type 27 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the CCDC65 gene, which causes primary ciliary dyskinesia type 27, a rare respiratory disorder.
Who should consider this test?
Individuals with symptoms like chronic cough, recurrent respiratory infections, or a family history of PCD should consider this test for accurate diagnosis.
How is the test performed?
The test requires a blood sample or extracted DNA, which is analyzed using NGS technology to identify genetic mutations.
What is the cost of the test?
The test costs INR 20000, which includes sample collection, analysis, and report delivery.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for this test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do positive results mean?
Positive results confirm a diagnosis of PCD type 27 due to CCDC65 gene mutations, guiding treatment and genetic counseling.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising or infection, which are rare.
Can this test detect other types of PCD?
This test specifically targets CCDC65 gene mutations for PCD type 27. Other genes may require separate testing.
Is genetic counseling provided?
Yes, genetic counseling is included to help interpret results and discuss implications for family planning.
What should I do before the test?
No special preparation is needed. Provide your clinical history and family pedigree if available.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations, but results should be correlated with clinical findings by a healthcare professional.
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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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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