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DNAI1 Gene Primary ciliary dyskinesia type 1 NGS Genetic Test

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DNAI1 Gene Primary ciliary dyskinesia type 1 NGS Genetic Test

Short Name: DNAI1 PCD Type 1 NGS Test

Also known as: PCD Type 1, DNAI1-related Primary Ciliary Dyskinesia

DNAI1 Gene Primary ciliary dyskinesia type 1 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 confirm the presence of mutations in the DNAI1 gene for diagnosing Primary Ciliary Dyskinesia Type 1, aiding in clinical management, genetic counseling, and family planning.

Test Code
4764
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 and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture or finger prick for FTA card.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis in the laboratory.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are required before sample collection.
2
During the Test:Blood sample collection is a minimally invasive procedure.
3
After the Test:Results are available in 3 to 4 weeks via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of this test is to confirm the presence of mutations in the DNAI1 gene for diagnosing Primary Ciliary Dyskinesia Type 1, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Ensure proper sample labeling
  • Use sterile collection tubes
  • Avoid hemolysis during blood draw

Doctor's Notes

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

"Early genetic diagnosis of PCD Type 1 via DNAI1 gene testing is essential for managing respiratory symptoms, preventing complications, and providing genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood: 2-8°C for up to 72 hours
FTA card: Room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic mutations in the DNAI1 gene.
📊

Pathogenic variant detected

Confirms diagnosis of PCD Type 1; genetic counseling recommended.

📊

No pathogenic variant detected

PCD Type 1 unlikely due to DNAI1 mutations; consider other genetic tests.

📊

Variant of uncertain significance

Further testing and clinical correlation advised.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms persist, if there is a family history of PCD, or for genetic counseling after test results.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results may include variants of uncertain significance
  • ⚠Does not rule out other genetic causes of PCD

Risks & Considerations

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

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is the DNAI1 Gene Primary Ciliary Dyskinesia Type 1 NGS Genetic Test?
It is a genetic test using next-generation sequencing to detect mutations in the DNAI1 gene, which causes Primary Ciliary Dyskinesia Type 1.
Who should consider this test?
Individuals with symptoms like chronic cough, recurrent infections, or male infertility, and those with a family history of PCD.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is home sample collection available?
Yes, free home collection is available for online bookings across India.
What is the cost of the test?
The test costs INR 20,000.
How is the test performed?
Using NGS technology to analyze the DNAI1 gene for mutations.
What are the symptoms of PCD Type 1?
Symptoms include chronic cough, recurrent respiratory infections, shortness of breath, clubbing, and male infertility.
Can this test diagnose other types of PCD?
No, it specifically targets DNAI1 gene mutations for PCD Type 1; other genes may require separate tests.
Is genetic counseling provided?
Yes, genetic counseling is recommended before and after the test.
What if the test result is positive?
A positive result confirms PCD Type 1, and you should consult a doctor for management and genetic counseling.
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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