Test Price
2,800 AED✅ Home Collection Available
ATP7A Gene Occipital Horn Syndrome Genetic Test in UAE | 2800 AED | DHA Certified
Executive Summary & Core Metrics
Comprehensive NGS-Based Molecular Confirmation
✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
✓ Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain transport and VIP Mobile Phlebotomy, available 8 AM – 11 PM daily across all Emirates.
✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance with expert interpretation of ATP7A variant results and actionable clinical correlation.
✓ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731 — confirm your policy coverage before sample collection.
This diagnostic service is performed at DNA Labs UAE, a DHA-licensed facility (No. 1143) located in Dubai Healthcare City. The test utilizes advanced NGS technology to sequence the ATP7A gene, providing definitive molecular diagnosis for Occipital Horn Syndrome (OHS), a rare X-linked recessive disorder of copper metabolism.
Test Overview & Methodology
The ATP7A Gene Occipital Horn Syndrome Genetic Test is a comprehensive molecular diagnostic assay that employs Next-Generation Sequencing (NGS) to identify pathogenic single nucleotide variants, small insertions/deletions, and copy number variations associated with Occipital Horn Syndrome (OHS). OHS is an X-linked recessive disorder of copper transport, characterized by connective tissue abnormalities, dysautonomia, and distinctive occipital exostoses. Early molecular diagnosis via NGS enables timely intervention with copper histidine therapy, significantly improving neurological outcomes. The following comparison table illustrates the clear advantages of our comprehensive NGS approach over conventional targeted Sanger sequencing.
| Parameter | Our Test — ATP7A NGS | Closest Alternative — Targeted Sanger Sequencing |
|---|---|---|
| Methodology | NGS (Next Generation Sequencing) — Full gene coverage | Sanger Sequencing — Limited to known hotspot regions |
| Variant Detection | SNVs, Indels, CNVs — comprehensive | Point mutations and small indels only; CNVs not detected |
| Diagnostic Sensitivity | 99.9% for coding region variants | Approximately 85–90% (misses deep intronic and CNV variants) |
| Turnaround Time | 3 to 4 Weeks | 2 to 3 Weeks |
| Clinical Utility | Gold standard for molecular confirmation, carrier testing, and differential diagnosis | Adequate only when familial mutation is already known |
| Price | 2800 AED | 1800–2500 AED (variable) |
All comparisons based on standard DHA/MOHAP clinical nomenclature and current laboratory benchmarking data.
Physician Insight & Safety Protocols
"As a Consultant Medical Geneticist, I emphasize that the ATP7A NGS test provides unparalleled molecular resolution for confirming a diagnosis of Occipital Horn Syndrome. A comprehensive analysis covering coding regions, splice sites, and CNVs is essential, as clinical presentation can overlap significantly with other copper transport disorders. Correlation with serum copper, ceruloplasmin, and radiographic findings remains critical. A negative NGS result in a patient with high clinical suspicion should prompt evaluation for deep intronic variants or whole genome sequencing. Definitive molecular diagnosis is the cornerstone for initiating appropriate therapy, prognostic counseling, and family cascade screening."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Note on Ongoing Management
Important: Do not discontinue any prescribed medication — including copper histidine supplementation, anti-epileptic drugs, or supportive therapies — without consulting your treating physician. Abrupt cessation of copper replacement therapy may precipitate acute neurological deterioration in patients with suspected or confirmed OHS. This test is intended to guide clinical management and should be interpreted in the full context of the patient's medical history.
Exclusion Criteria & Emergency Red Flags
Test Exclusion Criteria
- Inability to provide informed consent (patient or legal guardian per Federal Decree-Law No. 4 of 2016 on Medical Liability and UAE regulations governing genetic testing for minors).
- Recent allogeneic blood transfusion within 14 days (may cause sample chimerism).
- Prior bone marrow transplant from allogeneic donor (alters germline DNA profile).
- Unavailability for mandatory pre-test genetic counseling session.
- Incomplete or unverified clinical history and family pedigree documentation.
Emergency Red Flags — Seek Immediate Medical Attention
- Acute hypotonia with respiratory distress or stridor.
- New-onset generalized tonic-clonic seizures or status epilepticus.
- Sudden loss of previously acquired motor milestones.
- Bladder dysfunction with urinary retention (autonomic involvement).
- Severe failure to thrive with weight loss exceeding 10% in one month.
If any of the above symptoms occur, proceed to the nearest Emergency Department immediately. Inform the attending physician of the suspected or confirmed OHS diagnosis.
Patient FAQ & Clinical Guidance
1. What is the ATP7A Gene Occipital Horn Syndrome Genetic Test and why is it recommended?
This test is a comprehensive NGS-based analysis of the ATP7A gene, which is associated with Occipital Horn Syndrome (OHS), a rare X-linked recessive copper transport disorder. It is recommended for individuals presenting with clinical features such as occipital exostoses, generalized hypotonia, dysautonomia, and connective tissue abnormalities. Establishing a definitive molecular diagnosis is essential for guiding copper histidine therapy, providing accurate genetic counseling, and enabling carrier testing for at-risk family members.
2. How is the sample collected and what are the preparation requirements?
Sample collection begins with a mandatory pre-test genetic counseling session to document a comprehensive three-generation family pedigree. The specimen required is 3-5 mL of peripheral blood in an EDTA tube, extracted DNA, or a single spot on an FTA card. No fasting is required. Our VIP Mobile Phlebotomy team can perform the collection at your home across all UAE Emirates between 8 AM and 11 PM using ISO-certified temperature-controlled cold-chain logistics to ensure complete DNA integrity.
3. What is the turnaround time and what does the final report include?
Results are delivered within 3 to 4 weeks from sample accessioning. The comprehensive clinical report includes variant classification per ACMG/AMP guidelines, zygosity status, and actionable therapeutic recommendations. A post-test telephonic consultation with a DHA-licensed genetic specialist is included to review the molecular findings, clarify inheritance implications, and outline the next steps in clinical management. Direct billing verification and insurance reconciliation can be completed via WhatsApp at +971 54 548 8731.
4. How does UAE law protect my personal and genetic data?
Your genetic and personal health data are fully protected under 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. All genomic data is encrypted, stored securely, and can only be accessed by authorized medical personnel. You have the absolute right to request data erasure in writing at any time. DNA Labs UAE adheres to the highest standards of patient confidentiality and data governance.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All patient genomic data, family pedigrees, and personal health information are processed, stored, and transmitted in strict compliance with UAE PDPL provisions. Data encryption, anonymization for research purposes, and the patient's absolute right to data erasure upon written request are fully enforced.
Federal Law No. 2 of 2019 Concerning the Use of ICT in Health Fields: This diagnostic service operates under the full regulatory oversight of the UAE Ministry of Health and Prevention (MOHAP) and the Dubai Health Authority (DHA), ensuring adherence to all clinical laboratory licensure and health data governance mandates.
Federal Decree-Law No. 4 of 2016 on Medical Liability: All clinical procedures, patient consent protocols, and professional liability standards strictly follow this law, ensuring patient safety and clinical accountability.
ISO 9001:2015 Certification: Certified under Certificate No. INT/EGQ/2509DA/3139, ensuring standardized quality management systems across all pre-analytical, analytical, and post-analytical phases of genetic testing.
Clinical & Logistical Metadata
| Test Name | ATP7A Gene Sequencing (Occipital Horn Syndrome Panel) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Blood (EDTA), Extracted DNA, FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) with CNV Analysis |
| ICD-10-CM Code | E83.0 |
| LOINC Code | 81247-8 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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