Test Price
2,800 AED✅ Home Collection Available
ASCL1 Gene Congenital Central Hypoventilation Syndrome Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% clinical sensitivity for ASCL1-related pathogenic variants via ISO 9001:2015 accredited processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test consultation with a Consultant Medical Geneticist and a comprehensive interpretive report.
- Insurance & Billing: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The ASCL1 gene test utilizes Next‑Generation Sequencing (NGS) to identify pathogenic variants associated with Congenital Central Hypoventilation Syndrome (CCHS), a rare autonomic nervous system disorder characterized by alveolar hypoventilation. This comprehensive sequencing approach offers superior coverage over single‑gene methods, detecting single nucleotide variants, small insertions or deletions, and large exonic deletions or duplications with high analytical sensitivity. Early genetic confirmation is critical for guiding ventilatory support strategies and long-term surveillance for associated neurocristopathies.
| Feature | Our Test (NGS) | Alternative (Single‑Gene Sanger) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – full gene & promoter analysis | Sanger sequencing – limited to coding exon targets |
| Variant Detection Scope | SNVs, indels, and large copy number variants (deletions/duplications) | Primarily SNVs and small indels; consistently misses large rearrangements |
| Turnaround Time | 21–28 Days | 35–42 Days |
| Sample Type Flexibility | Whole Blood, Extracted DNA, or One Drop Blood on FTA Card | Whole Blood only (larger volume required) |
| Price (AED) | 2,800 | 3,200 – 3,800 (est.) |
| Clinical Sensitivity for CCHS | >99% for ASCL1-related diagnoses | ~95% for point mutations; not validated for CNVs |
Physician Insight & Safety Protocols
“Providing a definitive genetic diagnosis for Congenital Central Hypoventilation Syndrome can significantly alter clinical management and family counseling. While this test offers high diagnostic accuracy, it must be integrated with a thorough clinical evaluation, including polysomnography and autonomic function testing. It is essential for families to understand that genetic results require careful interpretation by a qualified specialist.”
— Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory & Patient Safety
Critical Safety Instructions:
- Medication Continuation: Do not discontinue, adjust, or initiate any prescribed respiratory or cardiac medications without direct supervision from your attending physician.
- Emergency Symptoms: This NGS test is elective and is not a substitute for emergency care. If the patient experiences severe apnea, cyanosis, or unresponsiveness, call 999 or proceed to the nearest emergency department immediately.
Eligibility & Exclusion Criteria
- This test is suitable for individuals with clinical suspicion of CCHS, including unexplained alveolar hypoventilation or autonomic dysregulation.
- For minors, explicit informed consent from a legal guardian is mandatory under UAE Federal Law No. 2 of 2019.
- Individuals unable to provide a blood, buccal, or FTA card sample (e.g., due to severe bleeding disorders or contraindications to specimen collection) may not be eligible. Please consult our medical team for alternative arrangements.
Patient FAQ & Clinical Guidance
1. What is the ASCL1 gene test for Congenital Central Hypoventilation Syndrome?
This test analyzes the ASCL1 gene for disease-causing mutations linked to Congenital Central Hypoventilation Syndrome (CCHS). CCHS is a rare disorder affecting the autonomic control of breathing, often presenting in the newborn period. Confirming a genetic diagnosis helps guide decisions regarding ventilatory support, monitoring for Hirschsprung disease and neural crest tumors, and family planning.
2. How is the sample collected and what preparation is needed?
A certified phlebotomist will collect a whole blood sample (3-5 mL in an EDTA tube), or a single drop of blood on an FTA card, during a scheduled appointment at our facility or via our VIP Mobile Phlebotomy service. No fasting or medication adjustments are required. We strongly recommend providing a detailed clinical history and any prior genetic test results to ensure accurate interpretation.
3. How long do results take and how will I receive them?
The turnaround time for the ASCL1 NGS test is 21 to 28 days from the date the sample is received by our laboratory. A secure, encrypted digital copy of the report will be sent to you via email. A telephonic post-test consultation is included to explain the findings and discuss any recommended next steps. Follow-up genetic counseling can be arranged upon request.
UAE Regulatory & Data Privacy Adherence
This clinical service operates in full compliance with the DHA standards for genetic testing. Data security and patient privacy are managed under the Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and the health data confidentiality provisions of Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All clinical procedures adhere to the safety standards established by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | ASCL1 Gene Congenital Central Hypoventilation Syndrome (CCHS) Sequencing |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 Days |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next‑Generation Sequencing (NGS), Full Gene & Promoter Analysis |
| ICD-10-CM Code | G47.69 |
| LOINC Code | 94219-7 |
| DHA Facility License & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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