Test Price
2,800 AED✅ Home Collection Available
ADNP Gene Helsmoortel-van der Aa Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited NGS 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 Clinical Guidance by DHA-licensed Genetic Counselors for Result Interpretation.
- ✓ Insurance: Direct Billing Verification & Prior Approval Assistance via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ADNP Gene NGS Test identifies pathogenic variants in the activity-dependent neuroprotector homeobox gene, confirming Helsmoortel-van der Aa syndrome — a rare neurodevelopmental disorder. Our ultra-deep next-generation sequencing delivers complete coding region coverage, enabling early intervention planning for affected children.
| Feature | Our Test (ADNP NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% analytical sensitivity; detects SNVs, indels, and copy number variants in one run | Targeted only; may miss large deletions/duplications without supplementary MLPA |
| Method | Illumina NovaSeq™ NGS with dual bioinformatics pipelines | Bidirectional Sanger sequencing, single exon focus |
| Turnaround Speed | 3–4 weeks with expedited reporting options | 6–8 weeks for combined Sanger + MLPA |
Physician Insight & Safety Protocols
"The ADNP gene variants detected by this NGS test are highly specific, but the final diagnosis must always be correlated with detailed clinical dysmorphology and neurodevelopmental assessments. This test is performed under strict laboratory standards with comprehensive bioinformatic analysis. Please do not discontinue any prescribed medication or therapy without consulting your supervising doctor. We are here to help you interpret these results in the full context of your child's health." — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication Continuation
Do not discontinue any prescribed medication without consulting your supervising physician. This genetic test is for diagnostic purposes only and does not replace ongoing clinical management.
Exclusion Criteria & Red Flags
- Exclusion: Sample hemolysis, clotted blood, or inadequate volume (<2 mL whole blood in EDTA); DNA FTA card with insufficient saturation.
- Exclusion: Patient is not clinically indicated for this single-gene test; full syndrome panel may be more appropriate.
- Emergency Red Flag: If the patient develops acute neurological deterioration, unresponsive staring spells, or respiratory distress, seek immediate ER care — these are not test-related but demand urgent evaluation.
- Emergency Red Flag: New-onset seizures or loss of previously attained developmental milestones require urgent pediatric neurology consultation.
Patient FAQ & Clinical Guidance
1. What is the ADNP gene test used for?
The ADNP gene next-generation sequencing test diagnoses Helsmoortel-van der Aa syndrome by detecting pathogenic variants in the ADNP gene with 99.9% sensitivity. This single-gene NGS assay screens the entire coding region of the ADNP gene for single nucleotide variants, small insertions/deletions, and copy number changes. It is indicated for infants and children presenting with dysmorphic features, intellectual disability, autism spectrum disorder, and other hallmarks of ADNP-related neurodevelopmental disorder.
2. How is the sample collected and what is the turnaround time?
A single blood sample or DNA FTA card is collected via pediatric-friendly home phlebotomy using our VIP Mobile Phlebotomy service, available daily from 8 AM to 11 PM. Samples are transported under temperature-controlled cold-chain to preserve DNA integrity. After arrival at our ISO 9001:2015 certified lab, NGS sequencing and bioinformatic analysis are completed within 3 to 4 weeks. Urgent processing options are available upon request.
3. Is this test covered by insurance in the UAE?
Many UAE insurance policies now include congenital and genetic testing, subject to medical necessity. We offer direct billing verification to check your coverage, and our team assists with prior approvals for genetic testing under UAE health plans. Send your Emirates ID and policy number via WhatsApp to +971 54 548 8731, and our billing team will verify eligibility and handle the pre-authorization process.
UAE Regulatory & Data Privacy Adherence
- Data Protection: All personal health information is processed in strict alignment with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring secure storage and no third-party data sharing without explicit consent.
- Health ICT Compliance: Our systems and data handling practices comply with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Medical Liability: Clinical testing safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Laboratory Accreditation: DNA Labs UAE holds ISO 9001:2015 certification (INT/EGQ/2509DA/3139) and operates under DHA Facility License Number 1143.
Clinical & Logistical Metadata
| Test Name | ADNP Gene (Helsmoortel-van der Aa Syndrome) Next-Generation Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (expedited options available) |
| Sample Type / Matrix | Whole blood (EDTA) or DNA FTA card |
| Methodology Used | Next-Generation Sequencing (Illumina NovaSeq™) with dual bioinformatics pipelines |
| ICD-10-CM Code | Q87.89 (Other specified congenital malformation syndromes) |
| LOINC Code | 81305-5 (ADNP gene targeted mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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