Skip to main content
DNA Labs India

SPAG1 Gene Primary ciliary dyskinesia type 28 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SPAG1 Gene Primary ciliary dyskinesia type 28 NGS Genetic Test

Also known as: Primary ciliary dyskinesia type 28, PCD Type 28, SPAG1-related PCD

SPAG1 Gene Primary ciliary dyskinesia type 28 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose primary ciliary dyskinesia type 28 by identifying pathogenic mutations in the SPAG1 gene using next-generation sequencing, enabling accurate clinical management and genetic counseling.

Test Code
4782
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 clinical history and undergo genetic counseling. No specific preparation required.

Step 2

Laboratory Analysis

Blood sample drawn from a vein or one drop on FTA card.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended to discuss test implications and family history.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Results available in 3-4 weeks. Follow-up with genetic counselor or physician.

About This Test

Who Should Get This Test

To diagnose primary ciliary dyskinesia type 28 by identifying pathogenic mutations in the SPAG1 gene using next-generation sequencing, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Collect blood in an EDTA tube
  • Alternatively, use an FTA card with one drop of blood
  • Ensure proper labeling and transport at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for PCD type 28 is crucial for accurate diagnosis and management of respiratory and reproductive issues, enabling targeted treatment and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood in EDTA: stable for 7 days at room temperature
FTA card: stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect container

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic variants in the SPAG1 gene. Genetic counseling is essential to understand the implications.
📊

Positive for pathogenic variant

Confirms diagnosis of PCD type 28. Clinical management and family screening recommended.

📊

Negative for pathogenic variant

No mutations detected in SPAG1 gene. Consider other genetic causes if symptoms persist.

📊

Variant of uncertain significance (VUS)

Further testing and clinical evaluation needed. Genetic counseling advised.

⚠️ When to Consult a Doctor:

If experiencing symptoms of PCD such as chronic respiratory infections, infertility, or hearing loss, or if there is a family history of PCD.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Variant of uncertain significance (VUS) may be identified

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Frequently Asked Questions

What is SPAG1 Gene PCD Type 28?
It is a rare genetic disorder caused by mutations in the SPAG1 gene, leading to defects in motile cilia and causing respiratory and reproductive issues.
What are the symptoms of PCD Type 28?
Symptoms include chronic cough, recurrent respiratory infections, shortness of breath, nasal congestion, chronic sinusitis, infertility, and hearing loss.
How is PCD Type 28 diagnosed?
Diagnosis involves clinical evaluation, imaging tests, and genetic testing using NGS to identify mutations in the SPAG1 gene.
What is the cost of the NGS genetic test?
The cost at DNA Labs India is INR 20,000, including home sample collection.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What does a positive result mean?
A positive result confirms a diagnosis of PCD type 28, guiding treatment and management strategies.
Can PCD Type 28 be treated?
While there is no cure, management includes respiratory therapies, antibiotics for infections, and fertility treatments as needed.
Is genetic testing covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers transparent pricing.
What is the accuracy of NGS testing?
NGS is highly accurate for detecting genetic mutations, but results should be interpreted in clinical context.
Who should get tested for PCD Type 28?
Individuals with symptoms of PCD or a family history of the disorder should consider testing.
How can I prepare for the test?
No special preparation is needed. Provide clinical history and undergo genetic counseling before testing.
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.

Related Tests

Ganciclovir Resistance Detection Test

₹8,986

Biotinidase Newborn Screen Test

₹807

Chromosome XON Microarray High Resolution Test

₹31,590

Cystic Fibrosis Mutation Detection Test

₹12,000

CYP2C19 Genotyping Test

₹10,500

G6PD Gene Mutation Detection Test

₹7,500
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.