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RSPH9 Gene Primary ciliary dyskinesia type 12 NGS Genetic Test

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RSPH9 Gene Primary ciliary dyskinesia type 12 NGS Genetic Test

Short Name: RSPH9 PCD Type 12 NGS Test

Also known as: PCD Type 12, RSPH9 Gene Mutation Test, Primary Ciliary Dyskinesia Type 12 Genetic Test

RSPH9 Gene Primary ciliary dyskinesia type 12 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. 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

To diagnose primary ciliary dyskinesia type 12 by identifying pathogenic mutations in the RSPH9 gene, enabling early intervention and management of respiratory and fertility issues.

Test Code
4767
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

No special preparation required. Inform the healthcare provider about any medications or medical history.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or a finger prick for FTA card collection.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to stop bleeding. Avoid strenuous activity for a few hours.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss family history and test implications.
2
During the Test:Sample collection is quick and minimally invasive, performed by a trained phlebotomist.
3
After the Test:Results will be reviewed by a geneticist, and a follow-up consultation is recommended.

About This Test

Who Should Get This Test

To diagnose primary ciliary dyskinesia type 12 by identifying pathogenic mutations in the RSPH9 gene, enabling early intervention and management of respiratory and fertility issues.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment
  • Label the sample correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Genetic testing for PCD type 12 is crucial for early diagnosis and management of respiratory symptoms, especially in patients with infertility or chronic respiratory issues."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger prick

Sample Stability

Blood: 48 hours at room temperature
DNA: Stable for years when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the RSPH9 gene associated with PCD type 12.
📊

Normal

No pathogenic variants detected; low risk for PCD type 12

📊

Abnormal

Pathogenic variants detected; confirms diagnosis of PCD type 12

📊

Variant of Uncertain Significance

Further testing or family studies may be needed

⚠️ When to Consult a Doctor:

If you experience chronic respiratory symptoms, infertility, or have a family history of PCD, consult a healthcare provider for genetic testing.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Limited to RSPH9 gene analysis

Risks & Considerations

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

Interfering Factors

  • ●Sample degradation
  • ●Contamination during collection
  • ●Insufficient DNA quantity

Compare With Similar Tests

TestRSPH9 Gene Primary ciliary dyskinesia type 12 NGS Genetic TestDNAH5 Gene PCD TestCCDC39 Gene PCD TestCCDC40 Gene PCD TestOFD1 Gene PCD Test
ComparisonRSPH9 Gene Primary ciliary dyskinesia type 12 NGS Genetic Test

Frequently Asked Questions

What is the RSPH9 Gene PCD Type 12 NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the RSPH9 gene, which cause primary ciliary dyskinesia type 12.
Who should consider this test?
Individuals with symptoms like chronic cough, recurrent sinus infections, infertility, or a family history of PCD.
What are the symptoms of PCD type 12?
Symptoms include chronic cough, recurrent sinus infections, chronic bronchitis, shortness of breath, infertility, and sometimes situs inversus or dextrocardia.
How is the test performed?
A blood or saliva sample is collected and analyzed using NGS technology to sequence the RSPH9 gene.
What is the cost of the test?
The test costs INR 20000, with home collection available across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in many cities across India.
What do the results mean?
Normal results indicate no pathogenic variants, while abnormal results confirm mutations associated with PCD type 12.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand implications and interpret results.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but emotional impact of results should be considered.
How accurate is the test?
NGS technology provides high accuracy for detecting genetic variants, but no test is 100% foolproof.
Can this test detect other forms of PCD?
No, this test specifically targets the RSPH9 gene for PCD type 12; other genes require separate tests.
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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