Test Price
2,800 AED✅ Home Collection Available
CCDC39 Gene — Primary Ciliary Dyskinesia Type 14 — Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CCDC39 gene encodes a protein essential for ciliary movement. Mutations cause primary ciliary dyskinesia type 14 (PCD14), a rare autosomal recessive disorder affecting the respiratory tract, sinuses, and ears. This NGS-based test analyses the entire coding region of CCDC39, detecting single nucleotide variants, small insertions/deletions, and copy number changes to confirm clinical suspicion or carrier status.
| Feature | Our Test – CCDC39 NGS Full Gene Analysis | Closest Alternative – Targeted Mutation Panel |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) with Illumina platform, confirmed by Sanger sequencing | Limited to pre-specified hot-spot mutations; may miss novel variants |
| Variant Detection | Full gene coverage including deep intronic regions and copy number variations | Partial gene coverage; no CNV detection |
| Turnaround Time | 3 to 4 Weeks | 2 to 3 Weeks |
| Diagnostic Yield | ~95% for primary ciliary dyskinesia type 14 | ~60% (dependent on ethnic background) |
Physician Insight & Safety Protocols
"As a clinical geneticist, I emphasize that comprehensive CCDC39 gene sequencing provides definitive diagnosis for primary ciliary dyskinesia type 14. A positive result enables targeted management of chronic respiratory and otologic complications, while a negative result can direct further investigations. This test should always be interpreted in the context of full clinical evaluation and family history." — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Medication Warning
✚ Medication Warning
Do not discontinue prescribed medication without consulting your doctor. Genetic test results may affect management but should never prompt abrupt changes to your current therapy.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Active acute febrile illness; recent blood transfusion (within 2 weeks); inability to provide informed consent for genetic testing; skin infection at phlebotomy site.
- Emergency Red Flags (seek immediate medical care): Severe respiratory distress, cyanosis (bluish lips/skin), acute hearing loss, or high fever with chills. These require urgent evaluation unrelated to sample collection.
Patient FAQ & Clinical Guidance
1. What is the purpose of CCDC39 gene testing and who should consider it?
The CCDC39 gene test confirms primary ciliary dyskinesia type 14 by identifying disease-causing mutations in patients with chronic sino-pulmonary infections or infertility. This test is ideal for children and adults with persistent wet cough, recurrent ear infections, nasal polyposis, or situs inversus. It also identifies carrier status in family members of affected individuals. Early diagnosis enables targeted respiratory physiotherapy and antibiotic prophylaxis to preserve lung function.
2. How should I prepare for the blood draw and is a genetic counselling session mandatory?
No special fasting is required; however, a pre-test genetic counselling session is mandatory to discuss family history and draw a pedigree chart. You will meet with a certified genetic counsellor (telephonic or in person) who explains the test’s scope, possible outcomes, and implications for your family. Blood collection (3-5 ml in EDTA tube) or dried blood spot on FTA card can be done at home between 8 AM and 11 PM. Do not stop any medications prior to collection.
3. What happens if my result is positive or uncertain, and how will I receive clinical guidance?
If a pathogenic variant is found, your ENT doctor or pulmonologist will integrate the finding with your clinical picture to tailor treatment—such as airway clearance techniques and hearing assessments. Variants of uncertain significance (VUS) are explained thoroughly, with optional family studies. A positive result triggers a post-test telephonic consultation with a specialist to interpret next steps. Direct billing to insurance is verified via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
This service fully adheres to 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 for secure handling of genetic data. Patient consent and clinical safety protocols are in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory operates under DHA Facility License Number 1143 and is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139). All home collections are performed by DHA-licensed phlebotomists using temperature-controlled cold-chain logistics.
Clinical & Logistical Metadata
| Test Name | CCDC39 Gene — Primary Ciliary Dyskinesia Type 14 — Full Gene Analysis (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or dried blood spot on FTA card |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | Q34.8 (Primary ciliary dyskinesia) |
| LOINC Code | 48018-6 (Genetic testing, gene analyzed) |
| 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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