Test Price
2,800 AED✅ Home Collection Available
RAB23 Gene Carpenter Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Test Overview: This diagnostic assay performs comprehensive sequencing of the RAB23 gene using a clinically validated next-generation sequencing (NGS) platform. The test achieves >99.9% diagnostic sensitivity for detecting pathogenic variants associated with Carpenter syndrome (acrocephalopolysyndactyly type II), an autosomal recessive disorder characterized by craniosynostosis, polysyndactyly, and congenital heart defects. Results are delivered as a full clinical report compliant with DHA and international nomenclature standards.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 certified NGS laboratory.
- 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 in result interpretation by a DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
The RAB23 NGS test fully sequences the causative gene for Carpenter syndrome, providing definitive molecular diagnosis from a single peripheral blood draw. The platform captures all coding exons, splice junctions, and flanking intronic regions with a mean depth of coverage exceeding 1,000×, enabling detection of single nucleotide variants, small insertions and deletions, and copy number alterations.
| Feature | DNA Labs UAE Test (ISO Accredited) | Closest Alternative |
|---|---|---|
| Precision | Full gene coverage with >1000× depth, detection of point mutations, indels, CNVs | Sanger sequencing of selected exons only |
| Methodology | Next Generation Sequencing (NGS) – Illumina platform, dual verification | Conventional PCR + Sanger; lower resolution |
| Turnaround Time | 3–4 Weeks (certified report with DHA-compliant nomenclature) | 4–6 Weeks; uncertain UAE regulatory compliance |
Physician Insight & Safety Protocols
“This NGS assay identifies pathogenic variants in RAB23 with excellent analytical sensitivity; however, a positive finding must always be correlated with the patient’s clinical phenotype and three-generation family pedigree. A negative result does not preclude the diagnosis if clinical suspicion remains elevated. I strongly recommend both pre- and post-test genetic counseling to help families fully understand the implications for recurrence risk and multidisciplinary care planning.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
Advisory Notice
⚠️ Do not discontinue any prescribed medication or supportive therapy without consulting your managing physician. This genetic test provides diagnostic information and does not replace ongoing medical care or emergency treatment.
Safety Exclusion & Emergency Red Flags
- Exclusion: Asymptomatic individuals with no family history of Carpenter syndrome and who have not undergone formal genetic counseling should defer testing until appropriate counseling is completed.
- Exclusion: Acute febrile illness or active infection requiring immediate medical attention – postpone sample collection until recovery.
- ⚠️ Emergency Red Flag: If the patient develops sudden respiratory distress, severe cyanosis, or altered consciousness, bypass the test and proceed to the nearest emergency department. Genetic diagnostics do not constitute urgent care.
- Minors: Testing requires documented parental or guardian consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability; a pre-test counseling session with the Consultant Medical Geneticist is mandatory.
Patient FAQ & Clinical Guidance
1. What is the RAB23 gene Carpenter syndrome NGS test in the UAE?
This NGS test sequences the entire RAB23 gene to diagnose Carpenter syndrome with >99.9% sensitivity. It identifies pathogenic, likely pathogenic, and variants of uncertain significance across all coding exons using a clinically validated NGS platform. The result enables definitive confirmation of the syndrome, aids in recurrence risk assessment, and guides multidisciplinary management.
2. How long does the RAB23 test take and what is the cost?
RAB23 NGS results are available within 3–4 weeks at a cost of 2,800 AED. The price includes the pre-test genetic counseling session, a sterile home or clinic blood draw, ISO cold‑chain transport, and a comprehensive clinical report. Direct insurance billing can be verified via WhatsApp.
3. Is this test safe for children, and what are the legal requirements?
Testing minors is safe and conducted under the provisions of Federal Decree-Law No. 4 of 2016 on Medical Liability, requiring documented parental or guardian consent and mandatory pre-test genetic counseling. A dedicated paediatric phlebotomist performs the collection gently. No sedation or invasive procedures are involved.
4. What happens after the results are ready?
Your Consultant Medical Geneticist will schedule a telephonic or in-person session to explain the findings, discuss implications for family members, and coordinate with your referring physician for any necessary follow‑up. A written clinical report is provided for your medical records.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic and personal data is classified as sensitive information, processed with explicit consent, encrypted at rest and in transit, and stored on UAE‑based servers with restricted access protocols.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: The laboratory’s health information systems comply with the technical standards for electronic health records and secure data exchange mandated by the DHA and Ministry of Health.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Patient consent, genetic counseling, and reporting procedures follow the legal framework governing medical professional liability and patient safety.
- ISO 9001:2015 Accreditation: Laboratory processes are certified under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and conform to DHA and MOHAP quality standards.
- DHA Facility License: 1143 issued to Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE.
Clinical & Logistical Metadata
| Test Name | RAB23 Gene Carpenter Syndrome Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next Generation Sequencing (NGS) |
| ICD-10-CM Code | Q87.0, Q87.2 |
| LOINC Code | 47708-2 |
| DHA License & Address | Lic. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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