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RSPH4A Gene Primary ciliary dyskinesia type 11 NGS Genetic Test

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RSPH4A Gene Primary ciliary dyskinesia type 11 NGS Genetic Test

Short Name: RSPH4A PCD Type 11 NGS Test

Also known as: RSPH4A Gene Sequencing Test, PCD Type 11 Genetic Test, Primary Ciliary Dyskinesia Type 11 DNA Test, RSPH4A Mutation Analysis, CILD11 Genetic Test

RSPH4A Gene Primary ciliary dyskinesia type 11 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.

NGS Genetic TestUnisexAll 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

The purpose of the RSPH4A Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the RSPH4A gene that cause Primary Ciliary Dyskinesia Type 11. This test aids in confirming a clinical diagnosis of PCD, differentiating PCD Type 11 from other subtypes and respiratory conditions, guiding treatment and management strategies, enabling carrier testing for family members, and supporting informed reproductive decision-making through genetic counseling.

Test Code
4775
ICD Code
Q34.8
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 or fasting is required. Provide a detailed clinical history and family pedigree information. A genetic counseling session is recommended prior to testing to discuss implications and possible outcomes.

Method: Venipuncture

Step 2

Laboratory Analysis

A small blood sample of approximately 3-5 mL will be collected via venipuncture from a vein in the arm. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be used for analysis.

Step 3

Report Delivery

Apply gentle pressure to the puncture site with a cotton ball or bandage. No specific post-collection restrictions are needed. Results will be available within 3 to 4 weeks and will be communicated via online portal, email, or WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No fasting is required. A genetic counseling session is recommended before testing to discuss the purpose of the test, implications of possible results, and to review family history. A pedigree chart of affected family members may be drawn during the counseling session.
2
During the Test:A blood sample of approximately 3-5 mL is collected via venipuncture from a vein in the arm. The sample is transported to the molecular genetics laboratory where DNA is extracted and analyzed using next-generation sequencing technology targeting the RSPH4A gene.
3
After the Test:After sample collection, a bandage is applied to the puncture site. No special post-test care is needed. Results are typically available within 3 to 4 weeks and will be communicated via the online portal, email, or WhatsApp. A follow-up genetic counseling session is recommended to discuss the results and plan next steps.

About This Test

Who Should Get This Test

The purpose of the RSPH4A Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the RSPH4A gene that cause Primary Ciliary Dyskinesia Type 11. This test aids in confirming a clinical diagnosis of PCD, differentiating PCD Type 11 from other subtypes and respiratory conditions, guiding treatment and management strategies, enabling carrier testing for family members, and supporting informed reproductive decision-making through genetic counseling.

How to Prepare

  • No fasting required before sample collection
  • Provide complete clinical history and family medical history
  • Genetic counseling session recommended before and after testing
  • Sample can be collected at home or at any DNA Labs India collection center
  • Blood sample should be collected in an EDTA (lavender top) tube
  • Ensure proper labeling of the sample with patient name, date of birth, and unique ID
  • Transport the sample at ambient room temperature to the laboratory

Doctor's Notes

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

"Primary Ciliary Dyskinesia is a genetically heterogeneous condition that can significantly impact respiratory health and fertility. Testing the RSPH4A gene through NGS technology helps confirm the diagnosis, guide long-term respiratory management, and enable informed family planning decisions. Early genetic diagnosis allows for proactive care and carrier screening for at-risk family members."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA Tube (Lavender Top)
Collection MethodVenipuncture

Sample Stability

Whole Blood (EDTA Tube)
Extracted DNA
Blood on FTA Card
Sample Rejection Criteria:
  • Insufficient sample volume for DNA extraction
  • Hemolyzed or clotted blood sample
  • Incorrect sample container used (non-EDTA tube)
  • Missing or mismatched patient identification on the sample
  • Sample received without proper documentation or clinical history form

Understanding Your Results

The results of the RSPH4A Gene NGS Genetic Test are interpreted by qualified molecular geneticists and clinical geneticists. A positive result indicates the presence of pathogenic or likely pathogenic variants in the RSPH4A gene, confirming a diagnosis of Primary Ciliary Dyskinesia Type 11. A negative result means no pathogenic variants were detected in the RSPH4A gene, though PCD caused by mutations in other genes cannot be excluded. Variants of uncertain significance (VUS) may require additional family studies or functional analysis for definitive classification.
📊

Pathogenic Variant Detected

High

📊

Likely Pathogenic Variant Detected

High

📊

Variant of Uncertain Significance (VUS)

Uncertain

📊

No Pathogenic Variant Detected

Low

⚠️ When to Consult a Doctor:

Consult your doctor if you or your child experiences chronic respiratory infections, persistent nasal congestion, chronic sinusitis, recurrent ear infections, hearing loss, unexplained infertility, or situs inversus. If a family member has been diagnosed with PCD or is a known carrier of RSPH4A mutations, genetic counseling and testing are strongly recommended for at-risk individuals.

Limitations

  • ⚠This test analyzes only the RSPH4A gene and does not detect mutations in other PCD-associated genes
  • ⚠Large genomic rearrangements or copy number variations may not be detected by standard NGS
  • ⚠Variants of uncertain significance (VUS) may be identified and may require further investigation or family studies
  • ⚠A negative result does not completely exclude PCD if caused by mutations in other genes
  • ⚠Intronic and regulatory region variants outside the targeted sequencing area may not be detected

Risks & Considerations

  • ●Minor bruising or discomfort at the blood collection site
  • ●Very rare risk of infection at the venipuncture site
  • ●Psychological impact of genetic test results including anxiety; genetic counseling is recommended before and after testing

Interfering Factors

  • ●Degraded or insufficient DNA quality may affect sequencing results
  • ●Recent blood transfusion within the past 4-6 weeks may interfere with DNA analysis
  • ●Contamination of the sample during collection or transport
  • ●Hemolyzed blood sample may impact DNA extraction quality

Compare With Similar Tests

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ComparisonRSPH4A Gene Primary ciliary dyskinesia type 11 NGS Genetic Test

Frequently Asked Questions

What is the RSPH4A Gene Primary Ciliary Dyskinesia Type 11 NGS Genetic Test?
This is a next-generation sequencing (NGS) based genetic test that analyzes the RSPH4A gene to detect mutations that cause Primary Ciliary Dyskinesia Type 11 (PCD Type 11). PCD is a rare genetic disorder affecting ciliary function in the respiratory tract, sinuses, ears, and reproductive system. The test uses advanced NGS technology to identify point mutations, insertions, deletions, and other variants in the RSPH4A gene.
What is Primary Ciliary Dyskinesia Type 11?
PCD Type 11 is a subtype of Primary Ciliary Dyskinesia caused by mutations in the RSPH4A gene. The RSPH4A gene encodes a protein essential for the normal structure and function of the radial spoke head of cilia. Mutations in this gene lead to impaired ciliary motility, resulting in chronic respiratory infections, sinusitis, ear infections, hearing loss, and potential fertility issues. PCD affects approximately 1 in 15,000 people worldwide.
Who should get the RSPH4A Gene NGS Genetic Test?
This test is recommended for individuals with symptoms of PCD such as chronic respiratory infections, persistent nasal congestion, recurrent ear infections, hearing loss, situs inversus (mirror-image organ arrangement), or unexplained infertility. It is also recommended for individuals with a family history of PCD or known RSPH4A mutations, and for carrier screening of family members of affected individuals.
What sample is required for this test?
The test requires a small blood sample of approximately 3-5 mL collected via venipuncture from a vein in the arm. Alternatively, extracted DNA or one drop of blood on an FTA card can also be used for analysis. The sample is collected by trained phlebotomists and can be done at home or at any DNA Labs India collection center.
Is fasting required before the RSPH4A Gene NGS Genetic Test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection. However, it is recommended to provide a detailed clinical history and undergo a genetic counseling session before testing.
How long does it take to get the results of the RSPH4A Gene NGS Genetic Test?
The results of the RSPH4A Gene NGS Genetic Test are typically available within 3 to 4 weeks from the date of sample collection. The turnaround time accounts for DNA extraction, NGS sequencing, bioinformatics analysis, variant interpretation, and report generation. Results are delivered via the online portal, email, or WhatsApp.
What is the cost of the RSPH4A Gene NGS Genetic Test at DNA Labs India?
The cost of the RSPH4A Gene Primary Ciliary Dyskinesia Type 11 NGS Genetic Test at DNA Labs India is Rs 20000.0. This price includes sample collection, DNA extraction, NGS sequencing, bioinformatics analysis, genetic analysis report, and a post-test genetic counseling session. Free home sample collection is available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the RSPH4A Gene NGS Genetic Test. The service is available in numerous cities across India including Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Surat, Pune, Jaipur, and many more. You can book home collection online or by calling our helpline.
What does a positive RSPH4A Gene NGS Genetic Test result mean?
A positive result means that a pathogenic or likely pathogenic mutation has been detected in the RSPH4A gene, confirming a diagnosis of Primary Ciliary Dyskinesia Type 11. Your doctor will discuss the implications, recommend appropriate respiratory management strategies, and advise on genetic counseling for family members who may be carriers or at risk.
Can a negative RSPH4A Gene test result rule out Primary Ciliary Dyskinesia?
A negative result means no pathogenic variants were found in the RSPH4A gene. However, PCD can be caused by mutations in many other genes including DNAH5, DNAI1, CCDC39, and others. A negative RSPH4A result does not completely rule out PCD. Your doctor may recommend additional genetic testing such as a comprehensive multi-gene PCD panel for further evaluation.
Is the RSPH4A Gene NGS Genetic Test suitable for carrier testing or prenatal testing?
The RSPH4A Gene NGS Genetic Test can be used for carrier testing in family members of affected individuals to determine if they carry a mutation. For prenatal testing, please consult with your genetic counselor or obstetrician to discuss the appropriate testing options, timing, and clinical implications. Pre-conception carrier screening is also available for couples planning a family.
Is genetic counseling recommended before and after the RSPH4A Gene NGS Genetic Test?
Yes, genetic counseling is strongly recommended both before and after the test. Pre-test counseling helps you understand the test purpose, possible outcomes, and implications for family members. Post-test counseling helps interpret the results, plan appropriate medical management, discuss recurrence risks, and guide family screening decisions. DNA Labs India includes a genetic counseling session as part of the test package.
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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