Test Price
2,800 AED✅ Home Collection Available
CREBBP Gene Rubinstein‑Taybi Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed Lab 1143
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited 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 on result interpretation with DHA-licensed genetic consultants.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CREBBP Gene Rubinstein‑Taybi Syndrome Genetic Test is a next‑generation sequencing assay that detects pathogenic variants in the CREBBP gene, confirming a clinical diagnosis of Rubinstein‑Taybi syndrome (RSTS) with high precision.
| Feature | Our Test (CREBBP NGS) | Closest Alternative |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity; full gene coverage via NGS | Single‑site Sanger sequencing; misses deep intronic/regulatory variants |
| Methodology | NGS (Next Generation Sequencing) with LC‑MS/MS validation | Targeted mutation panel (limited genes) |
| Turnaround Time | 3 to 4 Weeks | Often 6+ weeks if outsourced |
Physician Insight & Safety Protocols
“A definitive molecular diagnosis through CREBBP NGS can transform a family’s uncertainty into a clear management pathway. However, every result must be interpreted within the full clinical context, and this test alone should not replace a comprehensive dysmorphology evaluation. I strongly advise discussing the findings with a clinical geneticist before making any life-altering decisions.”
– Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Safety Advisory
Do not discontinue, adjust, or initiate any prescribed medications or therapies purely based on these test results. Always consult your treating physician or clinical geneticist for a comprehensive management plan.
Exclusion Criteria & Red Flags
- Inadequate sample quality (e.g., clotted blood or insufficient DNA yield) may preclude accurate analysis.
- Patients who have received a blood transfusion within the past 4 weeks should defer testing.
- Uncontrolled severe illness requiring emergency care — test should be deferred.
- If the patient experiences acute neurological deterioration, seizure, or sudden vision loss, seek immediate emergency care. This test is designed for elective diagnostic confirmation, not acute medical emergencies.
Patient FAQ & Clinical Guidance
1. What does the CREBBP NGS test detect, and how accurate is it?
It detects disease‑causing mutations in the entire CREBBP gene with over 99.9% diagnostic sensitivity, confirming Rubinstein‑Taybi syndrome at the molecular level.
2. How long does it take to receive results, and how are they delivered?
Results are ready within 3 to 4 weeks and delivered via secure encrypted email with an optional telephonic interpretation by a DHA‑licensed genetic counsellor.
3. Is a genetic counselling session required before the test?
Yes, a pre‑test genetic counselling session is mandatory to draw a pedigree chart and fully inform you about possible outcomes and family implications.
UAE Regulatory & Data Privacy Adherence
This section confirms strict adherence to the following UAE legislative frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ISO 9001:2015 Certified – Cert: INT/EGQ/2509DA/3139. DHA Facility License: 1143.
All genetic data is processed and stored securely within UAE borders in compliance with federal data protection mandates.
Clinical & Logistical Metadata
| Test Name | CREBBP Gene Rubinstein‑Taybi Syndrome Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | Q87.2, Z15.09, Z31.438 |
| LOINC Code | 81268-8 |
| DHA Facility License & Address | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | License: 1143 |
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ISMS 27001:2022
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