Test Price
2,800 AED✅ Home Collection Available
ASCL1 Gene Congenital Central Hypoventilation Syndrome – Genetic Diagnostic Test in Dubai, UAE | 2,800 AED
Executive Summary & Core Metrics
This advanced single-gene NGS assay delivers full coding-region sequencing of the ASCL1 gene to detect pathogenic variants responsible for Congenital Central Hypoventilation Syndrome (CCHS) with a diagnostic sensitivity of 99.9%. The test is conducted at ISO-accredited laboratories under DHA regulatory oversight, supported by temperature-controlled VIP home phlebotomy and telephonic result interpretation by a DHA-licensed Consultant Medical Geneticist.
Accuracy Guarantee: 99.9% Analytical Sensitivity via ISO-Accredited NGS Platform.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
Clinical Guidance: Telephonic Post-Test Result Interpretation by DHA-Licensed Specialist.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ASCL1 (MASH1) gene NGS test is a high-resolution, targeted sequencing assay that interrogates all coding exons and flanking intronic regions to identify disease-causing variants linked to Congenital Central Hypoventilation Syndrome (Ondine's Curse). This definitive molecular diagnostic tool enables early, precise diagnosis in neonates and paediatric patients presenting with autonomic dysregulation and central respiratory control failure, directly informing ventilator management and family planning decisions.
| Parameter | This Assay (DHA-Certified, DNA Labs UAE) | Standard Alternative |
|---|---|---|
| Methodology | NGS – Full Exon Capture, 100x Mean Read Depth, ACMG/ClinVar-Annotated Variant Interpretation | Sanger Sequencing – Single-Exon, Low Throughput, Limited Variant Annotation |
| Diagnostic Precision | 99.9% Analytical Sensitivity & Specificity | ~95% Sensitivity |
| Turnaround Time | 3 to 4 Weeks (Expedited Processing Available) | 6 to 10 Weeks |
| Sample Flexibility | Whole Blood (EDTA), Extracted DNA, FTA Card (One Drop) | Whole Blood Only |
| Post-Test Support | Telephonic Clinical Guidance + Genetic Counselling Referral | Report Only |
Physician Insight & Safety Protocols
"Families facing a possible diagnosis of CCHS often carry a heavy emotional burden while navigating complex respiratory care decisions. The ASCL1 NGS test provides definitive molecular evidence that can confirm the diagnosis and guide long-term ventilatory support strategies, yet the result must always be interpreted alongside the patient's full autonomic and respiratory profile. I emphasise that no change in ventilatory support or medication should be implemented based solely on genetic findings without a comprehensive discussion with the treating paediatric pulmonologist."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication & Therapy Advisory
⚠️ Do not alter or discontinue any prescribed ventilator settings, respiratory therapy, or medication without direct consultation with your supervising physician. This genetic test serves as a diagnostic adjunct and does not replace ongoing clinical management or emergency care protocols.
Patient Safety: Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to obtain a viable blood or DNA sample due to severe haemodynamic instability; recent allogeneic blood transfusion within 21 days (potential sample contamination); known medications that compromise DNA integrity — contact the laboratory for a complete avoidance list prior to collection.
- ER Red Flags — Seek Emergency Care Immediately: If the patient (especially an infant or child) experiences prolonged apnoeic episodes, deep cyanosis unresponsive to stimulation, significant bradycardia, or loss of consciousness, proceed to the nearest emergency department. These signs may indicate acute respiratory failure independent of genetic testing.
- Minors: In compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability, genetic testing of minors requires documented informed consent from the legal guardian and a treating physician's referral confirming medical necessity.
Patient FAQ & Clinical Guidance
1. What does the ASCL1 gene test diagnose and how accurate is the result?
The ASCL1 NGS test diagnoses Congenital Central Hypoventilation Syndrome (CCHS) by sequencing the full coding region of the ASCL1 gene to identify pathogenic variants with 99.9% analytical sensitivity and specificity. This assay is the definitive molecular diagnostic tool for confirming CCHS when clinical signs of autonomic dysregulation and abnormal respiratory control are present, producing results that directly guide life-saving ventilator management decisions for affected neonates and children.
2. How is the sample collected and can it be performed at home in the UAE?
A certified phlebotomist performs hospital-grade home collection using ISO-standard temperature-controlled cold-chain transport across all seven Emirates, ensuring sample integrity from collection to laboratory processing. Acceptable specimen types include standard venous blood (EDTA tube), pre-extracted DNA, or a single drop of blood on an FTA card — the latter being especially advantageous for neonates and infants where venipuncture may be challenging.
3. What happens after I receive the test result and will a doctor explain it to me?
A DHA-licensed clinician provides a dedicated telephonic post-result guidance session to explain your ASCL1 variant report in plain language, correlating the genetic findings with the patient's clinical presentation and recommending appropriate specialist referrals for ongoing care. This session ensures you fully understand the implications of the result — whether positive, negative, or a variant of uncertain significance — and connects you with paediatric pulmonologists or genetic counsellors within the UAE healthcare network.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Health Information Governance
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): Genomic data is classified as sensitive personal data; full encryption, access control, and confidentiality safeguards are enforced throughout the testing lifecycle.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: All digital health information systems handling test data comply with mandated security and interoperability standards.
- ISO 9001:2015 Certified Laboratory: Cert: INT/EGQ/2509DA/3139 | DHA Facility License No. 1143
- DHA & MOHAP Standard Nomenclature Compliance: All test codes, terminology, and reporting frameworks align with UAE health authority requirements.
Clinical & Logistical Metadata
| Test Name | ASCL1 Gene Sequencing – Congenital Central Hypoventilation Syndrome (CCHS) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks (Expedited Processing Available) |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card (One Drop) |
| Methodology Used | Next Generation Sequencing (NGS) – Full Coding Exon Capture, 100x Mean Read Depth |
| ICD-10-CM Code | G47.35 (Congenital Central Alveolar Hypoventilation Syndrome) |
| LOINC Code | 92824-5 (ASCL1 gene full mutation analysis in Blood or Tissue by Sequencing) |
| 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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