Test Price
2,800 AED✅ Home Collection Available
COL1A1 Gene Ehlers-Danlos Syndrome Type VIIA Genetic Test
Executive Summary & Core Metrics
Comprehensive Molecular Diagnosis for Arthrochalasia-Type EDS
Our DHA-licensed laboratory (License No. 1143) delivers the COL1A1 gene analysis via Next-Generation Sequencing (NGS) with 99.9% analytical sensitivity and specificity, certified under ISO 9001:2015. Turnaround time is 3 to 4 weeks from sample receipt.
VIP mobile phlebotomy and temperature-controlled home collection are available daily from 8 AM to 11 PM. The service includes mandatory pre-test genetic counselling, pedigree risk assessment, and a free post-test telephonic consultation with a Consultant Medical Genetics specialist.
For insurance verification, contact our team via WhatsApp at +971 54 548 8731 for immediate coverage confirmation.
Test Overview & Methodology
The COL1A1 Gene Ehlers-Danlos Syndrome Type VIIA Genetic Test is a comprehensive NGS assay that screens the entire COL1A1 coding region, splice sites, and flanking intronic regions to detect pathogenic variants causing EDS type VIIA (arthrochalasia type). This molecular diagnosis enables precise clinical management, genetic counselling, and cascade testing of at-risk family members.
Also known as arthrochalasia-type Ehlers-Danlos syndrome, this autosomal dominant condition presents with congenital bilateral hip dislocations, severe generalised joint hypermobility, recurrent subluxations, and fragile, hyperextensible skin that scars with a “cigarette‑paper” appearance. Early molecular confirmation is essential to prevent musculoskeletal complications and to guide dermatologic, orthopaedic, and rheumatologic surveillance.
| Feature | Our Test (NGS) | Closest Alternative (Single‑Gene Sequencing) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) with full COL1A1 gene coverage and CNV detection | Sanger sequencing of selected exons; limited deletion/duplication analysis |
| Turn‑Around Time | 3 to 4 Weeks | 6–8 Weeks |
| Pre‑Test Genetic Counselling | Included – pedigree drawing & risk assessment | Often not provided |
| Post‑Test Clinical Guidance | Free telephonic specialist consultation | Limited to written report |
| Laboratory Accreditation | ISO 9001:2015 Certified & DHA‑Licensed | May lack local DHA recognition |
Physician Insight & Safety Protocols
“A COL1A1 genetic result is a powerful diagnostic tool, but it must always be interpreted alongside the full clinical picture—including joint hypermobility scores, skin fragility assessment, and family history. A negative result does not rule out EDS if clinical features are strongly suggestive. Our team is dedicated to providing you with comprehensive genetic counselling and multidisciplinary care coordination.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Safety Advisory
Do not discontinue or alter any prescribed medication (e.g., antihypertensives, pain management) without consulting your physician. If you experience sudden joint dislocation that cannot be reduced, deep skin tears with slow healing, or new chest pain/shortness of breath, seek immediate emergency medical attention. This test is not a substitute for clinical evaluation.
Exclusion Criteria
- Severe coagulopathy or inability to provide a blood sample (e.g., due to extreme venous fragility).
- Minors (<18 years) without legal guardian consent (in accordance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Recent allogeneic bone marrow transplant (may lead to false‑negative germline results).
Emergency Red Flags – Seek Immediate Medical Attention
- Sudden, complete joint dislocation with inability to reduce.
- Deep skin tears exposing underlying tissue, with poor healing.
- New‑onset chest pain, palpitations, or shortness of breath.
- Acute abdominal pain or arterial rupture – EDS patients are at risk.
Patient FAQ & Clinical Guidance
1. What conditions are tested by the COL1A1 NGS panel for EDS?
This targeted NGS test identifies pathogenic COL1A1 variants causing Ehlers‑Danlos syndrome type VIIA (arthrochalasia type), an autosomal dominant disorder. The assay covers all coding exons, exon‑intron boundaries, and detects copy number variants, confirming the clinical diagnosis and enabling family screening.
2. How reliable is the COL1A1 genetic test, and what can affect its accuracy?
Our NGS assay achieves greater than 99.9% analytical sensitivity and specificity for COL1A1 mutations, validated under ISO 9001:2015 conditions. Accuracy depends on high‑quality DNA, absence of rare deep intronic variants not captured by the capture design, and the possibility of somatic mosaicism—all mitigated by expert curation and, when needed, orthogonal confirmation.
3. What is the preparation and sample collection process for this test?
Sample collection requires a simple blood draw—no fasting necessary—performed at your home by our DHA‑licensed mobile phlebotomist. Prior to the blood draw, you will have a mandatory genetic counselling session (telephone or in‑person) to discuss your clinical history, draw a detailed pedigree of affected family members, and obtain informed consent, ensuring that results are interpreted in the right context.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance
This test is performed in strict compliance with the UAE 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 genetic data is encrypted and stored in accordance with PDPL requirements. The laboratory holds DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | COL1A1 Gene Ehlers-Danlos Syndrome Type VIIA Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next-Generation Sequencing (NGS) with full gene coverage and CNV detection |
| ICD-10-CM Code | Q79.6 |
| LOINC Code | 21625-4 |
| DHA Facility License & Laboratory Address | DHA License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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