Test Price
2,800 AED✅ Home Collection Available
ESCO2 Gene Sequencing & Deletion/Duplication Analysis – SC Phocomelia (Roberts Syndrome) – Dubai, UAE
Executive Summary & Core Metrics
- Diagnostic Yield: >99% pathogenic variant detection rate via Next-Generation Sequencing (NGS) with comprehensive CNV analysis.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Oversight: Pre- and post-test genetic counselling mandated under Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Insurance Support: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ESCO2 gene test screens for pathogenic mutations causing SC Phocomelia syndrome (Roberts syndrome), a rare autosomal recessive disorder characterized by limb and craniofacial abnormalities. Our Next-Generation Sequencing (NGS) assay analyzes the full coding region, splice sites, and detects copy number variations (CNVs) with >99% sensitivity, providing definitive molecular confirmation for clinical management and family planning.
| Feature | DNA Labs UAE (NGS Plus) | Standard Sanger Sequencing |
|---|---|---|
| Methodology | NGS (full gene + CNV analysis) | Single-gene Sanger sequencing |
| Detection Rate | >99% of pathogenic variants | Limited to known point mutations |
| Turnaround Time | 3–4 weeks | 2–3 weeks (incomplete coverage) |
| Clinical Utility | Comprehensive diagnosis & carrier screening | Preliminary screening only |
Physician Insight & Safety Protocols
"As a Consultant Medical Geneticist, I emphasize that a positive ESCO2 result confirms the diagnosis of SC Phocomelia syndrome and enables precise family counseling. A negative result does not completely rule out other genetic syndromes. Genetic counseling before and after testing is essential to fully understand the implications for the child and family. Please do not discontinue any prescribed supportive care without consulting your treating physician."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication & Clinical Advisory
⚠️ Do not discontinue prescribed medication or supportive care without consulting your treating physician. All clinical decisions must be correlated with physical examination and detailed family history.
Exclusion Criteria & Emergency Red Flags
- Individuals without clinical suspicion or documented family history of Roberts syndrome.
- Pregnancy (unless prenatal diagnosis is planned with prior genetic counselling).
- Inability to provide informed consent (mandatory for minors; requires parental/guardian consent per Federal Law No. 2 of 2019).
- ER Red Flags: Seek immediate emergency care if the patient develops acute respiratory distress, severe feeding difficulties, or seizures.
Patient FAQ & Clinical Guidance
1. What is SC Phocomelia syndrome and how does ESCO2 gene testing help?
SC Phocomelia syndrome, also known as Roberts syndrome, is a rare autosomal recessive disorder caused by biallelic mutations in the ESCO2 gene affecting limb and craniofacial development. This NGS test provides definitive molecular confirmation to guide clinical management and family planning.
2. Why does the test take 3–4 weeks and what happens during that time?
The ESCO2 NGS test requires high-coverage sequencing of the entire coding region and splice sites, followed by advanced bioinformatic analysis to detect all pathogenic variants and copy number changes. This rigorous process ensures maximum diagnostic accuracy.
3. How should my family prepare for the test and what are the sample requirements?
A detailed clinical history, three-generation pedigree, and pre-test genetic counseling session are mandatory. The test accepts whole blood (EDTA), extracted DNA, or dried blood spot (FTA card), collected via our ISO-certified home phlebotomy service.
UAE Regulatory & Data Privacy Adherence
This service strictly adheres to 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 procedures are conducted under ISO 15189:2022 accredited processes in full compliance with DHA facility license regulations. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | ESCO2 Gene Sequencing & Deletion/Duplication Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV Analysis |
| ICD-10-CM Code | Q87.2, Z15.89, Z13.71 |
| LOINC Code | 82939-1 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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