Test Price
2,800 AED✅ Home Collection Available
ECEL1 Gene Arthrogryposis, Distal, Type 5D Genetic Test in Dubai Healthcare City
Executive Summary & Core Metrics
Clinical Excellence & Patient Convenience
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary Telephonic Post-Test Interpretation by a DHA-licensed genetic counselor.
- Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731
Pricing & Turnaround
- Total Price: 2,800 AED
- Turnaround Time: 3–4 Weeks
- Sample Type: Peripheral Whole Blood
- Methodology: Next-Generation Sequencing (NGS)
Test Overview & Methodology
This clinical-grade Next-Generation Sequencing (NGS) test fully analyses the coding region and exon-intron boundaries of the ECEL1 gene. The assay detects single nucleotide variants (SNVs), small insertions/deletions (indels), and copy number variations (CNVs) with 99.9% analytical sensitivity. This comprehensive assessment is critical for confirming a diagnosis of Distal Arthrogryposis Type 5D, a congenital musculoskeletal disorder characterized by joint contractures.
| Feature | Our NGS Test | Closest Alternative (Sanger Single-Exon) |
|---|---|---|
| Gene Coverage | Full coding region + exon-intron boundaries | Selected exons only |
| Variant Detection | SNVs, small indels, CNVs (high-depth) | SNVs, small indels; no CNV |
| Turnaround Time | 3–4 Weeks | 6+ Weeks |
| Reported Price | 2,800 AED | Often >3,500 AED |
Physician Insight & Safety Protocols
“Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): The identification of a pathogenic variant in the ECEL1 gene provides a definitive molecular diagnosis for Distal Arthrogryposis Type 5D. This knowledge is crucial for informed family planning, prognostic counseling, and the initiation of early, targeted physiotherapy and orthopedic interventions to maximize functional mobility.”
Safety and Consent Protocol
Standard Practice: Do not alter or discontinue any current medications or therapies without direct consultation with your prescribing physician. All clinical decisions should be made in partnership with your specialist.
Exclusion Criteria & Red Flags
- Exclusions: Active bleeding disorder or severe anaemia (home draw requires platelet count ≥50,000/µL); pregnancy requires specialized consent.
- Emergency Red Flags: Sudden worsening of joint contractures with swelling or pain, difficulty breathing, or new loss of bowel/bladder control – seek immediate emergency care.
- Minors: For children, home collection must be performed with a parent or legal guardian present and explicit written consent as per UAE regulations.
Patient FAQ & Clinical Guidance
1. What is the ECEL1 gene test diagnosing and why is it needed?
This test confirms Distal Arthrogryposis Type 5D by identifying mutations in the ECEL1 gene that disrupt neuromuscular development during fetal life. A precise genetic diagnosis enables targeted orthopedic management and informed genetic counseling.
2. How is the sample collected and what is the turnaround time?
A trained phlebotomist collects a small peripheral whole blood sample at your home using a temperature-controlled cold-chain kit. Results are delivered via a secure digital report within 3–4 weeks.
3. Is genetic counseling required before or after this test?
Yes, pre-test genetic counseling is mandatory to construct a detailed family pedigree and discuss implications. A complimentary post-test interpretation session is included to explain the clinical significance of the variant found.
4. Does this test cover all possible genetic causes of distal arthrogryposis?
No, this is a single-gene test specific to ECEL1. Other genes (e.g., TNNI2, TNNT3, MYH3) can cause other types of distal arthrogryposis. Your geneticist will determine if a broader panel is indicated based on your clinical presentation.
5. What are the privacy and data security measures for my genetic data?
Your genetic data is protected under the Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 for health data. Results are encrypted and only shared with your consent.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This test is performed at DNA Labs UAE under DHA Facility License Number 1143. All clinical operations adhere to the 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. Patient safety and clinical liability are governed under Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | ECEL1 Gene Arthrogryposis, Distal, Type 5D 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 | Q74.3, Q68.8 |
| LOINC Code | 94306-8 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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