Test Price
2,800 AED✅ Home Collection Available
PHOX2A Gene Congenital Central Hypoventilation Syndrome Genetic Test in UAE
Executive Summary & Core Metrics
Executive Summary
This ISO 9001:2015 certified, DHA-compliant genetic test delivers 99.9% diagnostic sensitivity for pathogenic PHOX2A gene mutations associated with Congenital Central Hypoventilation Syndrome (CCHS). The analysis employs high-depth Next Generation Sequencing to detect coding variants with maximum accuracy. VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection are available daily from 8 AM to 11 PM. Post-test clinical guidance is provided by our Consultant Medical Genetics specialist to coordinate multidisciplinary care and result interpretation.
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited processing.
- Premium Logistics: VIP mobile phlebotomy and cold-chain home collection (8 AM – 11 PM).
- Clinical Guidance: Telephonic post-test counselling with a Consultant Medical Genetics specialist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PHOX2A gene NGS test analyzes the paired-like homeobox 2A gene for pathogenic variants that cause Congenital Central Hypoventilation Syndrome (CCHS), a life-threatening autonomic disorder characterized by failure of automatic breathing control during sleep. This test is indicated for neonates, infants, and children presenting with unexplained hypoventilation, cyanotic episodes, or apnea, as well as for family members of confirmed CCHS patients. High-depth next generation sequencing ensures comprehensive coverage of all coding exons and splice junctions.
| Feature | Our NGS PHOX2A Test | Conventional Single-Gene Sequencing |
|---|---|---|
| Technology | Next Generation Sequencing (high-depth coverage) | Sanger sequencing (lower throughput) |
| Sensitivity | 99.9% detection of coding variants | ~95% for single-gene mutations |
| Turnaround Time | 3–4 weeks (ISO-certified lab) | 6–8 weeks (regional labs) |
| Price | 2800 AED | Varies (often >3500 AED) |
Physician Insight & Safety Protocols
A confirmed pathogenic PHOX2A mutation provides a definitive molecular diagnosis of Congenital Central Hypoventilation Syndrome. However, this result must be correlated with full polysomnography, autonomic function testing, and clinical phenotype. Therapeutic decisions—including ventilatory support settings and tracheostomy planning—should never be made based on genetic data alone. A multidisciplinary team involving genetics, pulmonology, neurology, and sleep medicine is essential for safe management. Please consult your child's specialist before making any changes to respiratory support.
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Ventilatory Support & Medication Precautions
Do not discontinue, adjust, or initiate any ventilatory support settings, respiratory medications, or sedation protocols without direct consultation with the managing specialist. Abrupt changes can precipitate life-threatening respiratory depression or hypoxia. Always maintain a current emergency action plan with your care team.
Exclusion Criteria & Emergency Red Flags
- Acute febrile illness or severe respiratory distress at the time of sample collection.
- Known current use of medications that interfere with DNA extraction (e.g., recent blood transfusion within 2 weeks — discuss with lab).
- Inability to provide an adequate blood or DNA sample; buccal swab alternative may be available (contact lab).
Seek immediate emergency care if your child exhibits: cyanosis, prolonged apnea, sudden lethargy, or unresponsiveness. Call 998.
Patient FAQ & Clinical Guidance
1. What does the PHOX2A gene test diagnose and who should consider it?
This NGS test detects pathogenic variants in the PHOX2A gene that cause Congenital Central Hypoventilation Syndrome, a condition where automatic breathing control fails during sleep, primarily affecting newborns and children. Candidates include infants with unexplained hypoventilation, apnea episodes, or a family history of CCHS.
2. How is the test performed and what is the sample requirement?
A simple peripheral whole blood draw is collected by a certified phlebotomist at your home or at our Dubai Healthcare City facility. The sample is transported under strict temperature-controlled cold-chain conditions to our ISO-accredited laboratory for NGS analysis. Results are typically available within 3–4 weeks.
3. What does the 2800 AED cost include and is it covered by insurance?
The fee covers genetic counselling, sample collection, NGS sequencing, bioinformatics interpretation, and a detailed clinical report. Direct billing to major insurers is available after verification via WhatsApp +971 54 548 8731. Please contact our billing team to confirm your specific policy coverage.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Health Information Governance: All genetic data is processed and stored on encrypted, Dubai-based infrastructure in full compliance 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 testing safety, patient consent, and medical liability are governed under Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | PHOX2A Gene Congenital Central Hypoventilation Syndrome Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, 8 AM – 11 PM) |
| Methodology Used | Next Generation Sequencing (high-depth coverage of coding exons and splice junctions) |
| ICD-10-CM Code | G47.35 (Congenital central alveolar hypoventilation syndrome) |
| LOINC Code | 21636-6 (Gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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