Test Price
2,800 AEDโ Home Collection Available
PHOX2B Gene Central Hypoventilation Syndrome (CCHS) with or without Hirschsprung Disease โ Genetic Test in UAE
Executive Summary & Core Metrics
Comprehensive Genetic Analysis for Central Hypoventilation Syndrome
DNA Labs UAE offers a clinically validated genomic sequencing test targeting the PHOX2B gene, associated with Congenital Central Hypoventilation Syndrome (CCHS) and Hirschsprung disease. Performed under ISO 9001:2015 accreditation using Next-Generation Sequencing (NGS), this assay delivers 99.9% analytical sensitivity for single nucleotide variants, insertions, deletions, and copy number alterations. The complete service includes a telephonic post-test clinical guidance session with a DHA-licensed Consultant Medical Geneticist.
- Accuracy Guarantee99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing.
- Premium LogisticsVIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical GuidanceTelephonic Post-Test Clinical Guidance in result interpretation by DHA-Certified Genetic Counselors.
- InsuranceDirect Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PHOX2B gene test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the coding regions and splice sites of the PHOX2B gene. This approach identifies pathogenic variants responsible for Congenital Central Hypoventilation Syndrome (CCHS) and associated Hirschsprung disease. The assay achieves 99.9% analytical sensitivity and specificity, with results typically available within 3 to 4 weeks from sample receipt. Acceptable specimen types include peripheral whole blood, extracted DNA, or a single dried blood spot on an FTA card.
| Feature | Our PHOX2B NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% analytical sensitivity; detects SNVs, indels, and copy number variants | Limited to smaller mutations; may miss large deletions/duplications |
| Methodology | NGS (Next Generation Sequencing) โ comprehensive gene coverage | Sanger sequencing โ targeted, lower throughput |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks (often longer for full gene analysis) |
| Sample Type | Whole Blood, Extracted DNA, or One Drop of Blood on FTA Card | Usually requires blood or extracted DNA |
Physician Insight & Safety Protocols
โAs a Consultant Medical Geneticist, I recognize the clinical complexity surrounding congenital central hypoventilation syndrome and its genetic underpinnings. The PHOX2B NGS assay provides a critical diagnostic anchor, yet results must be contextualized within a comprehensive clinical evaluation that includes respiratory physiology, cardiac assessment, and neurological examination. No therapeutic decisions should be made solely on genetic findings without consultation with a qualified specialist.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Information
Medication Warning
Do not discontinue or alter any prescribed medication regimen without explicit consultation with your treating physician. Genetic testing results may influence future management decisions, but current therapies must remain uninterrupted until a comprehensive clinical assessment is completed.
Exclusion Criteria
- Recent blood transfusion (within 2 weeks), which may introduce donor DNA and compromise test accuracy.
- Inadequate sample volume or degraded DNA not meeting laboratory quality metrics.
- Known hematologic malignancy requiring immediate oncologic intervention (risk of non-diagnostic sample).
Emergency Red Flags
- If the patient (especially infant) experiences apnea, cyanosis, severe bradycardia, or loss of consciousness during or after sample collection, call 998 or proceed to the nearest Emergency Department immediately.
Patient FAQ & Clinical Guidance
1. What is the PHOX2B gene test used for?
This test detects disease-causing mutations in the PHOX2B gene, confirming a diagnosis of Congenital Central Hypoventilation Syndrome (CCHS) and identifying cases associated with Hirschsprung disease. The test is indicated for infants, children, and adults presenting with unexplained central hypoventilation, particularly during sleep, along with constipation or intestinal obstruction suggestive of Hirschsprung disease.
2. What sample is required and how is collection performed?
Accepted specimens include peripheral whole blood (3-5 mL in EDTA), extracted high-molecular-weight DNA (minimum 1 ยตg), or a dried blood spot on an FTA card. Collection can be performed via VIP Mobile Phlebotomy at your home between 8 AM and 11 PM daily, or at our Dubai Healthcare City facility. All samples are transported under temperature-controlled cold-chain conditions to preserve nucleic acid integrity.
3. How long do results take and what is the total cost?
Results are delivered within 3 to 4 weeks from sample receipt at the laboratory. The fixed cost for the complete PHOX2B gene NGS analysis is 2,800 AED, which includes the genetic assay, bioinformatic interpretation, and a telephonic post-test counseling session with a DHA-licensed genetic counselor.
4. Will insurance cover this genetic test?
Coverage varies by insurance provider and policy. DNA Labs UAE offers direct billing verification for many UAE-based insurers. Please forward your policy details via WhatsApp to +971 54 548 8731 for a pre-test coverage assessment. A referral letter from a specialist may be required for reimbursement.
UAE Regulatory & Data Privacy Adherence
DHA Facility License Number: 1143 | Corporate Lab: DNA Labs UAE
All genetic testing procedures and patient data handling at DNA Labs UAE strictly comply 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 protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), ensuring robust quality management across pre-analytical, analytical, and post-analytical phases.
Clinical & Logistical Metadata
| Test Name | PHOX2B Gene Sequencing for Central Hypoventilation Syndrome (CCHS) with or without Hirschsprung Disease |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Gene Coding Regions & Splice Sites |
| ICD-10-CM Code | G47.35 (Congenital central alveolar hypoventilation syndrome), Q43.1 (Hirschsprung disease) |
| LOINC Code | 82305-2 (PHOX2B gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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