Test Price
2,800 AED✅ Home Collection Available
RSPH9 Gene (Primary Ciliary Dyskinesia Type 12) Genetic Test in UAE | AED 2,800 | DHA Licensed Genetics Lab
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity: ISO 15189‑accredited NGS laboratory with validated RSPH9 gene coverage.
- Premium Logistics: DHA-licensed mobile phlebotomy and ISO‑certified cold‑chain home collection available from 8 AM to 11 PM daily.
- Clinical Guidance: Complimentary post‑test tele‑consultation with a clinical geneticist for result interpretation and family planning.
- Insurance Made Easy: Direct billing verification via WhatsApp. Send your policy snapshot to +971 54 548 8731.
Test Overview & Methodology
The RSPH9 gene test uses Next‑Generation Sequencing (NGS) to detect pathogenic variants responsible for primary ciliary dyskinesia type 12 – a congenital disorder that impairs mucociliary clearance, leading to chronic rhinosinusitis, otitis media, bronchiectasis, and situs inversus. This targeted gene analysis delivers a definitive molecular diagnosis, enabling personalised ENT, pulmonary, and fertility management.
| Feature | Our Test (RSPH9 NGS) | Whole Exome Sequencing (WES) |
|---|---|---|
| Methodology | Targeted NGS – high read depth for RSPH9 | Broad exome capture with variable coverage |
| Analytical Sensitivity | >99.9% for single‑nucleotide variants & indels | ~95% but may miss deep intronic variants |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Cost in UAE | AED 2,800 | AED 5,000+ |
| Clinical Relevance | Directly confirms PCD type 12 | Incidental findings may cause anxiety |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Genetics, I see many patients with unexplained chronic respiratory infections. The RSPH9 gene test provides a precise molecular diagnosis for primary ciliary dyskinesia type 12, allowing targeted therapy and genetic counseling. However, a negative result does not rule out PCD caused by other genes. Results must always be interpreted in the context of clinical history, imaging, and functional testing.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory — Medication Continuation
Do not discontinue any prescribed medication (e.g., antibiotics, bronchodilators, mucolytics) without explicit instruction from your treating physician. Genetic test results are not a substitute for ongoing clinical management.
Exclusion Criteria & Emergency Red Flags
- Not suitable for asymptomatic individuals with no family history of PCD; genetic counseling is mandatory before testing.
- Not for prenatal diagnosis without prior consultation with a clinical geneticist and maternal–fetal medicine specialist.
- Recent bone marrow transplant or blood transfusion may interfere with DNA extraction – please inform our lab.
- Seek emergency care immediately if you develop sudden severe breathlessness, high fever, or chest pain. Genetic results cannot replace urgent medical evaluation.
Patient FAQ & Clinical Guidance
1. What does the RSPH9 genetic test detect?
1.1 What is the clinical target?
This test identifies pathogenic variants in the RSPH9 gene responsible for primary ciliary dyskinesia type 12, a congenital disorder causing chronic lung and ear infections due to impaired ciliary function.
1.2 How does the mutation affect health?
RSPH9 mutations disrupt the radial spoke head protein complex in cilia, leading to defective mucociliary clearance. Patients often experience chronic rhinosinusitis, recurrent otitis media, neonatal respiratory distress, and progressive bronchiectasis. Early molecular diagnosis guides ventilatory strategies, infection control, and fertility planning.
2. How is the test performed?
2.1 What is the sample type?
Sample type: Peripheral whole blood. A DHA‑licensed phlebotomist collects the sample at your home using a temperature‑controlled cold‑chain kit.
2.2 What is the laboratory process?
Genomic DNA is extracted from the blood, enriched for the RSPH9 gene, and sequenced on a high‑throughput NGS platform. All variants are interpreted by a board‑certified molecular geneticist. No special preparation is required.
3. When will I receive my results?
3.1 What is the expected turnaround time?
Results are typically available within 3 to 4 weeks (21–28 calendar days). Turnaround time accounts for rigorous variant classification and quality control.
3.2 How do I access my report?
A secure PDF report, including a plain‑language summary and clinician interpretation, is uploaded to your HIPAA‑ and PDPL‑compliant patient portal. For urgent cases, priority processing may be available on request.
UAE Regulatory & Data Privacy Adherence
Legal Framework: This test complies with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent follow Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Data Security: All genetic data is encrypted at rest (AES-256) and in transit (TLS 1.3). Access is restricted to authorized clinical staff only. No data is shared with third parties without explicit consent.
Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Facility licensed by Dubai Health Authority (License No. 1143). Laboratory participates in external quality assessment schemes.
Clinical & Logistical Metadata
| Test Name | RSPH9 Gene (Primary Ciliary Dyskinesia Type 12) Genetic Test |
| Price (AED) | AED 2,800 |
| Turnaround Time | 3–4 weeks (21–28 calendar days) |
| Sample Type / Matrix | Peripheral whole blood (VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection) |
| Methodology Used | Next‑Generation Sequencing (NGS), targeted gene analysis |
| ICD-10-CM Code | Q34.8 (Other congenital malformations of respiratory system) |
| LOINC Code | 21636-6 (Genetic analysis overall report) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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