Test Price
2,800 AED✅ Home Collection Available
EVC Gene (Ellis-van Creveld Syndrome) Genetic Test in UAE | 2800 AED | DHA Compliant
Executive Summary & Core Metrics
- Diagnostic Precision: 99.9% sensitivity via ISO-accredited Next‑Generation Sequencing (NGS) of the entire EVC gene coding region.
- Premium Logistics: VIP Mobile Phlebotomy & temperature-controlled cold-chain home collection available daily 8 AM–11 PM.
- Clinical Follow‑up: Complimentary post‑test tele‑consultation with a DHA‑licensed Consultant Medical Geneticist to interpret results and guide management.
- Insurance Assistance: Direct billing verification via WhatsApp at +971 54 548 8731 before your visit.
Core Metrics: Price 2,800 AED | Turnaround Time 3–4 Weeks | Sample: Peripheral Whole Blood, Extracted DNA, or FTA Card
Test Overview & Methodology
This molecular diagnostic test employs Next‑Generation Sequencing (NGS) on an Illumina platform to analyse the entire coding region of the EVC gene. It confirms or rules out a clinical suspicion of Ellis‑van Creveld syndrome (chondroectodermal dysplasia) in infants and children undergoing dysmorphology evaluation. By detecting single‑nucleotide variants and small insertions/deletions with >99.9% analytical sensitivity, the test provides a definitive genetic diagnosis within 3–4 weeks. Suitable samples include peripheral whole blood, extracted DNA, or a single drop on an FTA card, enabling flexible collection options for families.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Precision | Full gene NGS – 99.9% sensitivity for all EVC mutations | Sanger sequencing of selected exons (~85% sensitivity) |
| Method | Next‑Generation Sequencing (Illumina platform) | Capillary sequencing (older, lower throughput) |
| Speed | 3–4 Weeks | 5–8 Weeks |
| Sample | Blood, DNA, or FTA card – home collection included | Blood only, often requires hospital visit |
Physician Insight & Safety Protocols
“For families awaiting a genetic diagnosis, the emotional journey is as important as the clinical one. This NGS test delivers a clear molecular answer, but it must always be interpreted alongside a thorough clinical evaluation and imaging studies. At DNA Labs UAE, we ensure every result is reviewed by a qualified medical geneticist, and we encourage parents to ask questions at every stage. A genetic report is a starting point, not an endpoint.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
⚠️ Clinical Advisory
Do not discontinue any prescribed medication before or after the test without consulting your physician. Genetic testing does not replace ongoing medical management. Results should always be correlated with a complete clinical picture and, where applicable, with imaging and cardiology assessments.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion from home collection: Active bleeding disorder (e.g., haemophilia), severe thrombocytopenia, or inability to provide adequate venous access.
- Post‑collection warning: If your child develops a haematoma, excessive bleeding, or signs of infection at the puncture site, seek immediate medical attention.
- Emergency red flags for Ellis‑van Creveld syndrome: Respiratory distress, cyanosis (bluish skin), or signs of cardiac failure in a newborn — go directly to the nearest emergency department regardless of pending test results.
- Laboratory limitation: This test is not designed to detect somatic mosaicism below 5% variant allele frequency and should not replace urgent clinical assessment.
Patient FAQ & Clinical Guidance
1. What is Ellis‑van Creveld syndrome and why is the EVC gene tested?
Snippet: Ellis‑van Creveld syndrome is a rare autosomal recessive genetic disorder characterised by short‑limb dwarfism, postaxial polydactyly (extra fingers), and congenital heart defects, most commonly atrial septal defect.
Mutations in the EVC gene disrupt primary ciliary function, leading to the typical skeletal, ectodermal, and cardiac features of chondroectodermal dysplasia. Our NGS test identifies pathogenic variants across the entire coding region, providing a definitive molecular diagnosis that guides multidisciplinary management of cardiac, dental, and orthopaedic issues.
2. How should I prepare my child for the blood draw?
Snippet: No special fasting is required — simply keep your child well‑hydrated and inform the phlebotomist about any bleeding disorders or medications.
The test can be performed on a small volume of whole blood, extracted DNA, or a few drops on an FTA card. Our home collection team uses paediatric‑friendly techniques to minimise discomfort. Genetic counselling is recommended before sampling to discuss the implications of a positive result and to construct a family pedigree.
3. How reliable is the test and what happens after I receive the result?
Snippet: With over 99.9% analytical sensitivity and ISO‑certified protocols, the report clearly states whether a disease‑causing mutation was found in your child’s EVC gene.
Results are reviewed by our DHA‑licensed clinical team. A positive finding confirms the diagnosis and informs targeted cardiac and orthopaedic follow‑up. A negative result may require further specialist evaluation for other skeletal dysplasias. We offer a complimentary tele‑consultation with the Consultant Medical Geneticist to explain the implications and outline next steps.
UAE Regulatory & Data Privacy Adherence
Your genetic data is protected under UAE law.
- Data Security: We comply 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.
- Patient Consent & Safety: All procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability for clinical safety and informed consent.
- Accreditations: ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and DHA‑licensed facility.
- Corporate Lab: DNA Labs UAE | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | EVC Gene (Ellis‑van Creveld Syndrome) Genetic Test – Full Gene Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next‑Generation Sequencing (Illumina) |
| ICD-10-CM Code | Q77.6 (Chondroectodermal dysplasia, Ellis‑van Creveld syndrome) |
| LOINC Code | 81247-9 (EVC gene mutation analysis) |
| DHA Facility License & Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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