Test Price
2,800 AED✅ Home Collection Available
PHOX2B Gene Sequencing – Congenital Central Hypoventilation Syndrome (CCHS) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing — full-gene NGS coverage detecting both common polyalanine repeat expansions (PARM) and rare non-PARM mutations in the PHOX2B gene.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all Emirates.
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation with board-certified genetic counsellors — ensuring every patient and family understands the implications for ventilator management, Hirschsprung screening, and familial risk assessment.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The PHOX2B Gene Genetic Test is a definitive molecular diagnostic tool for Congenital Central Hypoventilation Syndrome (CCHS), a life-threatening autosomal dominant disorder of autonomic respiratory control, with or without Hirschsprung disease. This test sequences the entire coding region of the PHOX2B gene on chromosome 4p13 using Next Generation Sequencing technology, detecting both polyalanine repeat expansion mutations (PARM) in exon 3 and rare non-PARM sequence variants — ensuring no mutation is missed.
Our Test vs. Closest Alternative
| Feature | Our Test – PHOX2B Full Gene NGS Sequencing | Closest Alternative – Targeted PHOX2B Fragment Analysis |
|---|---|---|
| Diagnostic Sensitivity | 99.9% — Detects PARM + all non-PARM variants | ~90% — Misses non-PARM mutations (~10% of CCHS cases) |
| Methodology | NGS (Next Generation Sequencing) — Full gene coverage with copy number analysis | PCR-based fragment analysis — Polyalanine repeat sizing only |
| Turnaround Time | 3 to 4 Weeks with comprehensive clinical interpretation report | 2 to 3 Weeks — May require reflex to full sequencing (additional delay) |
| Clinical Utility | Complete genotype-phenotype correlation; guides ventilator weaning, Hirschsprung screening, and family planning | Limited to common PARM; negative result does not rule out CCHS |
| Sample Requirement | Blood, Extracted DNA, or One Drop Blood on FTA Card — flexible collection options | Typically requires whole blood; limited sample flexibility |
Physician Insight & Safety Protocols
A Clinical Note from Lina Osama Zaki Quteineh — Consultant Medical Genetics, DHA License: 9294403
As a clinical geneticist specializing in rare autonomic disorders, I emphasize that PHOX2B testing is the cornerstone of CCHS management. A positive result clarifies the respiratory phenotype, directs screening for Hirschsprung disease and neuroblastoma, and informs family planning. However, genetic results must be interpreted in the context of the patient’s clinical history, sleep study data, and family pedigree. I strongly recommend pre- and post-test genetic counselling for all individuals and families undergoing this test.
Medication Advisory — Do Not Discontinue Prescribed Therapies
Do not discontinue prescribed medication — including respiratory stimulants, ventilatory support, or any chronic therapy — without consulting your treating physician. Abrupt discontinuation of ventilatory support in CCHS patients can lead to life-threatening hypoventilation and cardiorespiratory arrest. Always seek medical guidance before making any changes to your care plan.
Safety Box — Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed Without Clinical Clearance):
- Neonates under 48 hours of age without stabilized respiratory support — sample collection must be coordinated with NICU team
- Acute respiratory decompensation or unresolved apnoeic episode within preceding 72 hours
- Haemodynamic instability (persistent bradycardia <60 bpm or SpO₂ <85% on optimal support)
- Active sepsis or severe coagulopathy contraindicating venous sampling
Emergency Red Flags — Seek Immediate Medical Attention:
- Prolonged apnoea (>20 seconds) or cyanotic episodes, especially during sleep
- Altered consciousness, lethargy, or unresponsiveness suggestive of hypercapnic encephalopathy
- Severe abdominal distension with bilious vomiting — possible Hirschsprung-associated enterocolitis
- Seizure activity or unexplained cardiac arrhythmia in a known or suspected CCHS patient
- Sudden deterioration in respiratory status following any sedation or anaesthesia exposure
Patient FAQ & Clinical Guidance
1. What is the PHOX2B gene test and why is it ordered for suspected CCHS?
The PHOX2B gene NGS test is a comprehensive genetic analysis that identifies mutations in the paired-like homeobox 2B gene responsible for Congenital Central Hypoventilation Syndrome — a rare disorder where the autonomic nervous system fails to control breathing, particularly during sleep. Clinicians order this test when an infant or child presents with unexplained hypoventilation, apnoeic episodes, or when there is a family history of CCHS, because early molecular confirmation enables life-saving interventions including diaphragmatic pacing, mechanical ventilation, and proactive Hirschsprung disease screening.
2. What sample types are accepted and how should I prepare for the test?
We accept three flexible sample types: whole blood collected in EDTA tubes, previously extracted genomic DNA, or a single drop of blood dried on an FTA card — making this accessible even for fragile neonates where venipuncture is challenging. Prior to sample collection, a mandatory genetic counselling session is required to construct a detailed pedigree chart documenting all family members affected by or at risk for CCHS and Hirschsprung disease, ensuring accurate interpretation of the genetic findings within the familial context.
3. How long do results take and what does a positive result mean for my child's care?
Results are available within 3 to 4 weeks, accompanied by a comprehensive clinical report that interprets the specific PHOX2B genotype — polyalanine repeat length, missense, nonsense, or frameshift variants — and correlates each with established CCHS severity phenotypes. A positive result confirms the diagnosis and directly informs the multidisciplinary care plan, including decisions about tracheostomy ventilation versus non-invasive mask ventilation, diaphragmatic pacemaker candidacy, Hirschsprung disease surveillance with rectal suction biopsy, and assessment for neural crest-derived tumours such as neuroblastoma in subset mutations.
UAE Regulatory & Data Privacy Adherence
Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL)
All genetic data is classified as sensitive personal data under the UAE PDPL. We implement encrypted storage, restricted access, and patient-controlled data sharing protocols to ensure full compliance with data protection requirements.
Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
Our electronic health data handling, test reporting, and clinical communication systems adhere strictly to this law, ensuring secure and interoperable health information exchange across UAE healthcare entities.
Additional Compliance: Patient consent for genetic testing follows the guidelines of Federal Decree-Law No. 4 of 2016 on Medical Liability, guaranteeing informed consent and patient safety throughout the testing process.
Clinical & Logistical Metadata
| Test Name | PHOX2B Gene Sequencing – Congenital Central Hypoventilation Syndrome (CCHS) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) — Full gene coding region and copy number analysis |
| ICD-10-CM Code | G47.35 (CCHS), Q43.1 (Hirschsprung disease), Z13.71 (genetic screening) |
| LOINC Code | 59099-9 |
| 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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