Test Price
2,800 AED✅ Home Collection Available
RBPJ Gene Adams-Oliver Syndrome Type 3 Genetic Test in UAE – Molecular Confirmation & Clinical Guidance
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Certified Next-Generation Sequencing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across Dubai, Abu Dhabi, and the Northern Emirates.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance session with a board-certified geneticist for result interpretation and care coordination.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731; submit your insurance card for a real-time eligibility check.
- Price: AED 2,800 – inclusive of genetic counseling, molecular analysis, and a comprehensive clinical report.
Test Overview & Methodology
The RBPJ Gene Adams-Oliver Syndrome Type 3 Genetic Test employs next-generation sequencing (NGS) to identify pathogenic variants across all coding exons, splice junctions, and intronic boundaries of the RBPJ gene. Adams-Oliver syndrome type 3 is a rare autosomal dominant disorder classically presenting with aplasia cutis congenita of the scalp, transverse limb defects, and congenital cardiovascular malformations. Early molecular diagnosis enables targeted surveillance by a multidisciplinary team—dermatology, cardiology, genetics, and pediatric neurology—and guides lifelong management. Our laboratory integrates CNV detection and variant classification according to ACMG/AMP guidelines, ensuring clinical accuracy for this YMYL-critical diagnostic asset.
| Feature | Our NGS Test (RBPJ Gene) | Standard Single-Gene Sanger Sequencing |
|---|---|---|
| Coverage | Full gene (coding exons, splice sites, CNV detection) | Limited to selected exons, no CNV analysis |
| Sensitivity | >99.9% for SNVs/indels, CNVs | ~95% for point mutations, misses large deletions |
| Turnaround Time | 3–4 weeks | 6–8 weeks (often batched) |
| CNV Detection | Integrated bioinformatics pipeline | Not available |
Physician Insight & Safety Protocols
"Families navigating the uncertainty of unexplained scalp defects, limb anomalies, or congenital heart disease deserve definitive answers delivered with clinical precision and empathy. This RBPJ gene analysis provides the molecular confirmation to resolve the diagnostic odyssey, yet results must always be correlated with a comprehensive physical examination, family history, and echocardiographic assessment. I strongly recommend that referring physicians engage a clinical geneticist for variant interpretation and a cardiologist for baseline cardiac evaluation before and after testing."
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Medication & Clinical Continuity
Do not discontinue or alter any prescribed medication, cardiac therapy, or dermatological wound care regimen before or after providing a sample for this genetic test without explicit instruction from your treating physician. Molecular results are intended to inform, not replace, ongoing clinical management. If you experience new or worsening symptoms—including scalp bleeding, signs of infection at the site of aplasia cutis, cyanosis, or respiratory distress—seek immediate emergency care regardless of test scheduling.
Exclusion Criteria & Clinical Red Flags
- Exclusion – Minor Testing: Testing for individuals under 18 years requires written informed consent from a legal guardian; pre-test genetic counseling is mandatory prior to sample collection in alignment with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion – Recent Transfusion: Patients who have received a blood transfusion, platelet transfusion, or bone marrow transplant within the preceding 30 days should defer testing to avoid false-negative or mosaic results due to donor DNA admixture.
- Red Flag – Emergent Symptoms: Sudden enlargement of a scalp defect with active bleeding, purulent discharge, or signs of meningitis (fever, neck stiffness, altered consciousness) requires immediate emergency department evaluation—do not wait for genetic results.
- Red Flag – Cardiac Decompensation: If the patient exhibits cyanosis, tachypnea, poor feeding, or oxygen desaturation, urgent pediatric cardiology assessment and echocardiography are indicated irrespective of the genetic test outcome. A positive RBPJ variant mandates expedited cardiac imaging to rule out structural heart disease.
Patient FAQ & Clinical Guidance
1. What does the RBPJ gene test detect?
This test identifies disease-causing mutations in the RBPJ gene, which are responsible for Adams-Oliver syndrome type 3. The condition features a triad of scalp skin defects (aplasia cutis congenita), shortened or missing fingers/toes, and congenital heart malformations. The analysis uses next-generation sequencing to read every coding region of the gene and detect both small sequence changes and larger deletions or duplications (copy number variants). Results are interpreted by a consultant medical geneticist and delivered in a clinical report suitable for your specialist.
2. Is a blood draw the only way to provide a sample for this test?
No, you have multiple convenient options. You may provide a standard whole blood sample (3–5 mL in an EDTA tube), a purified DNA extract, or a single dried blood spot on an FTA card—all yield equivalent diagnostic accuracy. Our VIP mobile phlebotomy service sends a licensed nurse to your home across the UAE, using temperature-controlled cold-chain packaging to preserve sample integrity from your doorstep to our ISO-certified laboratory. Home collection is available daily from 8 AM to 11 PM.
3. How long will results take, and how will I receive them?
The turnaround time is 3 to 4 weeks from the date the laboratory receives your sample. Your confidential report is securely delivered to your ordering physician, who will schedule a dedicated telephonic post-test clinical guidance session with our genetics team to review findings and coordinate next steps. Direct patient access to raw genomic data is governed by Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL); you may request a copy of your de-identified report through your physician.
4. Will insurance cover the AED 2,800 cost of this genetic test?
Coverage depends on your specific insurance plan and the clinical indication. DNA Labs UAE offers a direct billing verification service—send your insurance card via WhatsApp to +971 54 548 8731, and our team will check your eligibility and any prior authorization requirements before sample collection. Many plans cover genetic testing when ordered by a specialist for a suspected rare disease, but out-of-pocket costs may apply if the test is deemed non-essential by the insurer.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA) and adheres to the highest standards of patient data protection and clinical safety. All genetic testing procedures are compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring that your genetic information is encrypted, access-controlled, and never shared with third parties without explicit consent. Additionally, the laboratory follows Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for all electronic health data transactions. Clinical safety and patient consent protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability, which mandates pre-test genetic counseling, informed consent, and the right to withdraw from testing at any stage. Our DHA Facility License Number is 1143, and all genetic reports are issued under the supervision of licensed medical geneticists registered with the DHA.
Clinical & Logistical Metadata
| Test Name | RBPJ Gene Adams-Oliver Syndrome Type 3 Genetic Test (NGS with CNV Analysis) |
| Price (AED) | AED 2,800 |
| Turnaround Time | 3–4 Weeks from sample receipt |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene coding exons, splice sites, and CNV detection via bioinformatics pipeline, ACMG/AMP variant classification |
| ICD-10-CM Code | Q87.8 – Other specified congenital malformation syndromes affecting multiple systems (Adams-Oliver syndrome) |
| LOINC Code | 81306-6 – Genetic analysis of gene mutation (RBPJ targeted sequencing) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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