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DNAL1 Gene Primary ciliary dyskinesia type 16 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DNAL1 Gene Primary ciliary dyskinesia type 16 NGS Genetic Test

Short Name: DNAL1 PCD Type 16 NGS Test

Also known as: DNAL1 Gene Test, PCD Type 16 Genetic Test, Primary Ciliary Dyskinesia Type 16 NGS Test

DNAL1 Gene Primary ciliary dyskinesia type 16 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 Sequencing (NGS)All 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 diagnose primary ciliary dyskinesia type 16 by detecting pathogenic mutations in the DNAL1 gene using next-generation sequencing, enabling accurate clinical management and genetic counseling.

Test Code
4771
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 special preparation required. Provide clinical history and family pedigree information.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm, or a saliva sample will be collected using a kit.

Step 3

Report Delivery

Apply pressure to the puncture site for blood draw. Store samples as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical and family history. Genetic counseling is recommended prior to testing.
2
During the Test:The sample undergoes DNA extraction and next-generation sequencing to analyze the DNAL1 gene.
3
After the Test:Results are reviewed by geneticists and reported with interpretation guidance.

About This Test

Who Should Get This Test

To diagnose primary ciliary dyskinesia type 16 by detecting pathogenic mutations in the DNAL1 gene using next-generation sequencing, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

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

"Genetic testing for PCD type 16 is crucial for accurate diagnosis, management of respiratory symptoms, and informed 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 or Saliva Collection

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 blood sample
  • Insufficient sample volume
  • Improper labeling or contamination

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the DNAL1 gene associated with PCD type 16.
Positive: Pathogenic variant detected, consistent with PCD type 16 diagnosis
Negative: No pathogenic variants detected; clinical correlation recommended
Variant of Uncertain Significance (VUS): Further testing or family studies may be needed
⚠️ When to Consult a Doctor:

If symptoms of chronic respiratory infections, sinusitis, or infertility persist, or for genetic counseling and family planning after a positive result.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires interpretation by a genetic specialist
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

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

Compare With Similar Tests

TestDNAL1 Gene Primary ciliary dyskinesia type 16 NGS Genetic TestPCD Gene Panel TestNasal Nitric Oxide TestHRCT Chest
ComparisonDNAL1 Gene Primary ciliary dyskinesia type 16 NGS Genetic Test

Frequently Asked Questions

What is primary ciliary dyskinesia type 16?
PCD type 16 is a rare genetic disorder caused by mutations in the DNAL1 gene, leading to dysfunctional cilia and symptoms like chronic respiratory infections and infertility.
What causes PCD type 16?
It is caused by pathogenic mutations in the DNAL1 gene, which is inherited in an autosomal recessive pattern.
What are the symptoms of PCD type 16?
Common symptoms include chronic cough, wheezing, recurrent pneumonia, chronic sinusitis, and infertility.
How is PCD type 16 diagnosed?
Diagnosis involves clinical evaluation, imaging tests like HRCT, nasal nitric oxide testing, and genetic testing such as the DNAL1 NGS test.
What is the DNAL1 gene?
The DNAL1 gene encodes a protein essential for ciliary movement; mutations disrupt cilia function, leading to PCD type 16.
How does the NGS genetic test work?
Next-generation sequencing (NGS) analyzes the DNA sequence of the DNAL1 gene to detect mutations associated with PCD type 16.
What sample is required for the test?
A blood sample, extracted DNA, or a saliva sample can be used for testing.
Is fasting required for the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates the presence of a pathogenic DNAL1 mutation, confirming a diagnosis of PCD type 16.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across India.
Is the test covered by insurance?
Coverage varies; it is advisable to check with your insurance provider for specific details.
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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