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RSPH1 Gene Primary ciliary dyskinesia type 24 NGS Genetic Test

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RSPH1 Gene Primary ciliary dyskinesia type 24 NGS Genetic Test

Short Name: RSPH1 Gene PCD Type 24 NGS Test

Also known as: PCD Type 24, RSPH1-related PCD, Primary ciliary dyskinesia 24

RSPH1 Gene Primary ciliary dyskinesia type 24 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 identify pathogenic mutations in the RSPH1 gene to diagnose Primary Ciliary Dyskinesia Type 24, enabling accurate clinical management, family planning, and genetic counseling.

Test Code
4779
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

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

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture technique.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss test implications and draw a family pedigree chart.
2
During the Test:Sample collection and processing in the lab using NGS technology for DNA sequencing.
3
After the Test:Report generation and delivery with genetic counseling for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the RSPH1 gene to diagnose Primary Ciliary Dyskinesia Type 24, enabling accurate clinical management, family planning, and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label the sample correctly with patient details

Doctor's Notes

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

"This NGS test is essential for confirming PCD Type 24, guiding treatment, 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 Volume5-10 mL blood
ContainerEDTA tube
Collection MethodVenipuncture

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
  • Incorrect labeling or container

Understanding Your Results

Results indicate the presence or absence of mutations in the RSPH1 gene associated with PCD Type 24. Genetic counseling is recommended for understanding implications.
📊

Negative

No pathogenic variants detected in RSPH1 gene. PCD Type 24 unlikely but clinical correlation needed.

📊

Positive

Pathogenic variant detected, confirming diagnosis of PCD Type 24. Further management and family screening advised.

📊

Variant of Uncertain Significance (VUS)

Genetic variant found but significance unclear. Repeat testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If you experience chronic respiratory symptoms, recurrent infections, infertility, or have a family history of PCD, consult a geneticist or pulmonologist for evaluation and possible testing.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample storage

Compare With Similar Tests

TestRSPH1 Gene Primary ciliary dyskinesia type 24 NGS Genetic TestNasal Biopsy for Ciliary UltrastructureSweat Chloride TestNasal Nitric Oxide MeasurementOther PCD Gene Panels
ComparisonRSPH1 Gene Primary ciliary dyskinesia type 24 NGS Genetic Test

Frequently Asked Questions

What is PCD Type 24?
PCD Type 24 is a rare genetic disorder caused by mutations in the RSPH1 gene, leading to dysfunctional cilia and respiratory issues.
What are the symptoms of PCD Type 24?
Symptoms include chronic cough, recurrent respiratory infections, wheezing, shortness of breath, nasal congestion, sinus infections, ear infections, and infertility.
How is PCD Type 24 diagnosed?
Diagnosis involves clinical evaluation, imaging tests, and genetic testing like the RSPH1 Gene NGS Test to confirm mutations.
What is the cost of the RSPH1 Gene NGS Test in India?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is the test accurate?
Yes, NGS technology provides high accuracy for detecting mutations in the RSPH1 gene.
Who should get this test?
Individuals with symptoms of PCD, family history of the disorder, or unexplained infertility should consider testing.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
What if the test result is positive?
A positive result confirms PCD Type 24, and genetic counseling will guide management and family screening.
Can this test be used for prenatal diagnosis?
Consult a geneticist for prenatal testing options, as this test is typically for postnatal 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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