Test Price
2,800 AED✅ Home Collection Available
EP300 Gene Rubinstein-Taybi Syndrome Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Diagnostic Accuracy: ≥99.9% sensitivity for single‑nucleotide and copy‑number variants in the EP300 gene.
- Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM–11 PM across UAE).
- Post‑Test Support: Telephonic genetic counseling session included to interpret results.
- Insurance: Direct coverage verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The EP300 gene NGS test identifies pathogenic variants associated with Rubinstein‑Taybi syndrome (RTS), a rare congenital disorder characterised by broad thumbs, distinctive facies, and intellectual disability. This advanced next‑generation sequencing assay provides definitive molecular confirmation, guiding personalised care and genetic counselling for families in the UAE.
| Feature | Our EP300 NGS Test | Closest Alternative (Sanger / Exome) |
|---|---|---|
| Precision | ≥99.9% single‑nucleotide variant detection with copy‑number analysis | Limited to known mutations or incidental findings; may miss deep intronic variants |
| Methodology | Next‑Generation Sequencing (Illumina® platform, full EP300 gene coverage) | Sanger sequencing of select exons or whole‑exome with limited coverage uniformity |
| Turnaround Time | 3 – 4 Weeks | 4 – 8 Weeks (Sanger) / 8 – 12 Weeks (Exome) |
| Price | 2800 AED | Varies; often higher with additional sequencing and interpretation fees |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403 “The EP300 gene NGS test is a cornerstone for confirming Rubinstein-Taybi syndrome. However, results must always be interpreted alongside thorough clinical evaluation and a comprehensive genetic counselling session. Do not alter any ongoing medication without your physician’s guidance. If new or worsening symptoms appear, seek immediate medical care.”
Advisory: Medication Safety
⚠ Medication Safety Reminder
Do not discontinue prescribed medication without consulting your doctor. Always inform the genetic counsellor of any current therapies before sample collection.
Safety Exclusion Criteria & Emergency Red Flags
- New‑onset fever or signs of acute infection at time of sample collection.
- Severe anaemia or bleeding disorder that contraindicates routine venipuncture.
- Uncontrolled seizure episode within the last 24 hours – reschedule after stabilisation.
- Refusal or inability to provide informed consent (this test is not for emergency diagnosis).
Seek emergency care immediately if the patient experiences:
- Difficulty breathing or severe respiratory distress.
- Sudden neurological deterioration, loss of consciousness, or intractable seizures.
- Signs of severe infection (high fever, lethargy, photophobia).
Patient FAQ & Clinical Guidance
1. What is the EP300 gene NGS test used for?
The EP300 gene NGS test identifies pathogenic mutations causing Rubinstein‑Taybi syndrome, a rare multisystem disorder characterised by distinctive facial features, broad thumbs, and intellectual disability.
2. How is the sample collected?
A simple blood draw (or DNA extraction from saliva) is performed by our ISO‑certified home collection team; an FTA card can also be used for convenient transport.
3. How long do results take?
Results are typically ready within 3 to 4 weeks, as comprehensive NGS analysis and expert interpretation require rigorous quality control and clinical validation.
UAE Regulatory & Data Privacy Adherence
Data Protection: All genetic data is processed in full compliance with 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.
Clinical Safety: Patient consent and clinical validity are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Facility License: DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | EP300 Gene Rubinstein-Taybi Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next‑Generation Sequencing (Illumina®) with full EP300 gene coverage and CNV analysis |
| ICD-10-CM Code | Q87.2 (Rubinstein-Taybi syndrome) |
| LOINC Code | 21649-3 (EP300 gene mutation detection) |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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