Test Price
2,800 AED✅ Home Collection Available
RSPH1 Gene Primary Ciliary Dyskinesia Type 24 DNA Test (NGS) in UAE – 2800 AED
Executive Summary & Core Metrics
Advanced genetic testing using Next-Generation Sequencing (NGS) technology to diagnose Primary Ciliary Dyskinesia type 24 caused by RSPH1 gene mutations. Delivered with 99.9% diagnostic accuracy through an ISO-accredited laboratory, complemented by VIP mobile phlebotomy home collection and genetic counselling.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Consultation with Consultant Medical Genetics.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) test analyses the RSPH1 gene to diagnose Primary Ciliary Dyskinesia type 24, a hereditary disorder of motile cilia causing recurrent sino-pulmonary infections, chronic otitis media, and possible situs inversus. Unmatched speed and precision return results within 3 to 4 weeks.
| Feature | DNA Labs UAE NGS Test | Standard Gene Panel |
|---|---|---|
| Methodology | Targeted NGS with high-depth sequencing of RSPH1 | Sanger sequencing (single gene, limited coverage) |
| Diagnostic Sensitivity | >99.9% (detects point mutations, indels, CNVs) | ~85% (may miss large deletions/duplications) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Sample Type | Whole Blood / Extracted DNA / FTA Card (1 drop) | Whole Blood only |
| Post-Test Consultation | Included – Consultant Medical Genetics | Often not included |
Physician Insight & Safety Protocols
Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): "This NGS assay is a powerful tool for confirming Primary Ciliary Dyskinesia when clinical suspicion is high, but a negative result does not exclude PCD because other genes or non-genetic ciliopathies may be responsible. Interpretation of the report must integrate electron microscopy findings, nasal nitric oxide, and high-speed video microscopy. I urge all patients to remain under the care of a clinical geneticist, ENT specialist, or pulmonologist. Do not discontinue any prescribed medication without consulting your physician."
Safety Advisory – Medication Continuation
Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Always consult your physician before making any changes to your treatment regimen.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to provide venous blood sample; severe coagulopathy (INR >2.0); neonates less than 48 hours old unless medically indicated; unavailability of legal guardian for minors in accordance with UAE Federal Law No. 2 of 2019.
- Post-Collection Red Flags – Seek Immediate Medical Attention: Uncontrollable bleeding at venipuncture site, spreading redness or warmth, pus discharge, syncope lasting more than 2 minutes, or new onset of shortness of breath.
Patient FAQ & Clinical Guidance
1. What does the RSPH1 DNA test diagnose?
The RSPH1 DNA test diagnoses Primary Ciliary Dyskinesia type 24, a genetic cilia motility disorder. This condition impairs mucus clearance from the lungs, sinuses, and ears, leading to chronic infections, bronchiectasis, and sometimes organ laterality defects. The test sequences the entire coding region of the RSPH1 gene, identifying harmful mutations that confirm the diagnosis with more than 99.9% sensitivity when analyzed by our ISO-accredited laboratory.
2. How is the sample collected and what preparation is required?
Sample collection requires a simple venipuncture or a single drop of blood on an FTA card, with no fasting needed. Our certified phlebotomist can visit your home between 8 AM and 11 PM, transporting the sample in a temperature-controlled cold chain to guarantee DNA integrity. You must provide a detailed clinical history of recurrent respiratory symptoms, family history of PCD or situs inversus, and any prior genetic counselling records. A pre-test genetic counselling session is mandatory and can be arranged via our WhatsApp support.
3. When will I receive results and how are they interpreted?
Results are delivered within 3 to 4 weeks via a secure electronic report, followed by a telephonic consultation with a Consultant Medical Genetics. The report classifies variants according to ACMG guidelines and provides a clear clinical correlation statement. Positive results confirm PCD type 24 and guide targeted management; negative results may still require further testing for other PCD genes or ciliary ultrastructural analysis. You will receive a bilingual (English/Arabic) summary to share with your ENT or pulmonology team.
UAE Regulatory & Data Privacy Adherence
- Data Privacy: Fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Your genetic data is encrypted, anonymized, and never shared without your explicit written consent.
- Healthcare Technology Law: Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, governing electronic health records and telemedicine consultations.
- Medical Liability: All clinical procedures and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ISO Certification: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | RSPH1 Gene Primary Ciliary Dyskinesia Type 24 DNA Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood / Extracted DNA / FTA Card (1 drop) |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) with high-depth coverage of the RSPH1 coding region |
| ICD-10-CM Code | J98.4 (Primary Ciliary Dyskinesia) |
| LOINC Code | 81313-7 (RSPH1 gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians