Test Price
2,800 AED✅ Home Collection Available
RET Gene Congenital Central Hypoventilation Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity via ISO 15189‑accredited NGS analytics with full exon coverage of the RET proto‑oncogene.
- Premium Home Collection: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection, available daily from 8 AM to 11 PM across Dubai and the UAE.
- Clinical Guidance: Post‑test tele‑consultation with a DHA‑licensed Consultant Medical Geneticist for comprehensive result interpretation and family counseling.
- Insurance Support: Instant WhatsApp verification of direct billing eligibility at +971 54 548 8731.
This molecular assay targets germline pathogenic variants in the RET proto‑oncogene associated with Congenital Central Hypoventilation Syndrome (CCHS) and Hirschsprung disease. The test is performed under stringent DHA quality standards at our Dubai Healthcare City laboratory, ensuring clinically actionable results for pediatric and adult patients.
Test Overview & Methodology
The RET Gene Next‑Generation Sequencing (NGS) test analyzes the entire coding region and splice sites of the RET proto‑oncogene to detect pathogenic single‑nucleotide variants, insertions, and deletions. This advanced molecular approach provides comprehensive coverage for congenital central hypoventilation syndrome (CCHS) and associated Hirschsprung disease, enabling early diagnosis and targeted clinical management. The test is processed at our CAP‑accredited molecular diagnostics laboratory in Dubai Healthcare City under strict quality controls.
| Feature | Our Test – RET NGS | Closest Alternative – RET Sanger Sequencing |
|---|---|---|
| Diagnostic Precision | >99.9% per nucleotide, complete exon and intron‑exon boundary coverage | ~99% , limited to exons with known mutational hotspots |
| Methodology | Next‑Generation Sequencing (NGS) – full gene analysis with bioinformatics annotation | Capillary Sanger sequencing – targeted individual exons only |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks |
| Sample Flexibility | Whole blood, FTA card, extracted genomic DNA (gDNA) | Whole blood or purified DNA only |
Physician Insight & Safety Protocols
"The RET NGS panel provides a comprehensive genetic snapshot for infants presenting with unexplained central hypoventilation or severe constipation. A positive finding must be correlated with polysomnography, echocardiography, and a thorough family pedigree. Early multidisciplinary involvement—including neonatology, pulmonology, pediatric surgery, and clinical genetics—is critical for optimizing respiratory support and long‑term neurodevelopmental outcomes."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory & Clinical Guidance
A genetic diagnosis of CCHS guides ventilatory management, screening for Hirschsprung disease, and surveillance for neural crest tumors. Do not alter or discontinue any prescribed ventilatory support, medication, or monitoring plan without direct consultation with your treating physician and genetic counselor. The test result is one component of a comprehensive clinical assessment.
Exclusion Criteria & Clinical Red Flags
- Exclusion criteria: Active chemotherapy or radiation therapy that may degrade germline DNA; severe bone marrow failure or hematological disorders affecting nucleated cell yield; inability to provide a viable blood, FTA, or gDNA specimen.
- Emergency red flags: If your child experiences sudden severe respiratory distress, cyanosis (bluish discoloration of the skin), unresponsiveness, or seizure activity, seek immediate emergency medical care — do not delay treatment while awaiting genetic test results.
Patient FAQ & Clinical Guidance
1. What conditions does the RET gene NGS test detect?
This assay detects pathogenic variants in the RET proto‑oncogene that cause Congenital Central Hypoventilation Syndrome (CCHS), Hirschsprung disease, and associated neurocristopathies. Early molecular diagnosis enables proactive ventilatory management, surgical referral for aganglionic megacolon, and tumor surveillance for medullary thyroid carcinoma and pheochromocytoma.
2. How is the sample collected, and what is the turnaround time?
A trained phlebotomist collects a peripheral whole blood sample (2–5 mL in EDTA) at your home or at our Dubai Healthcare City collection center. Results are reported within 3–4 weeks. For archival tissue or extracted DNA, a Secure Medical Courier Solid Tissue Specimen Retrieval service is available.
3. Is RET NGS testing covered by UAE health insurance?
Many UAE health insurers cover medically indicated genetic testing for symptomatic individuals with a clinical suspicion of CCHS or Hirschsprung disease. Contact our billing team on WhatsApp at +971 54 548 8731 for instant policy verification and direct billing eligibility.
4. What happens after a positive result is confirmed?
A positive result triggers a comprehensive genetic counseling session with our Consultant Medical Geneticist. The counseling includes discussion of penetrance, recurrence risk, cascade testing for at‑risk family members, and coordination with pulmonology, pediatric surgery, and oncology specialists for a tailored management plan.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Legal Compliance Framework
All genetic data generated through this test is processed, stored, and transmitted 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 safety and patient consent protocols adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is a DHA‑licensed facility (License No. 1143) operating under the regulatory oversight of the Dubai Health Authority and the UAE Ministry of Health & Prevention.
Every patient specimen is de‑identified before sequencing, and all genetic reports are encrypted end‑to‑end. Access to raw sequence data is restricted to certified molecular geneticists and bioinformaticians bound by strict confidentiality agreements.
Clinical & Logistical Metadata
| Test Name | RET Gene Congenital Central Hypoventilation Syndrome (CCHS) Genetic Test – Next‑Generation Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole blood (EDTA), FTA card, or extracted genomic DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) – full gene coding regions and splice sites |
| ICD-10-CM Code | G47.35 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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