Test Price
2,800 AED✅ Home Collection Available
CDH3 Gene Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM)
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in Result Interpretation by Consultant Medical Genetics
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
- Price: 2800 AED
- Turnaround Time: 3–4 Weeks
Test Overview & Methodology
The CDH3 gene test utilizes next-generation sequencing (NGS) to analyze all coding regions and splice sites of the P-cadherin gene. This comprehensive molecular analysis confirms or excludes ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM) syndrome. The test provides clinically actionable results for dermatologists, clinical geneticists, and ophthalmologists managing patients with characteristic features including abnormal skin texture, nail hypoplasia, sparse hair, digit malformations, and progressive retinal degeneration.
Comparison: NGS Versus Conventional Sanger Sequencing
| Feature | Our NGS Test | Conventional Sanger Sequencing |
|---|---|---|
| Diagnostic Sensitivity | 99.9% for all coding exons & splice sites | ~95%, limited to targeted variant/region |
| Methodology | Massively parallel NGS (ISO-15189 calibrated) | Single‑region chain‑termination method |
| Turnaround Time | 3–4 weeks | 5–6 weeks |
| Variant Detection | Single nucleotide, small indels, copy number variants* | Only known point mutations in targeted amplicon |
*CNV detection via validated bioinformatics pipeline.
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics specialist, I emphasize that CDH3 genetic test results must be interpreted within the full clinical context including dysmorphology examination, ophthalmologic assessment, and three-generation pedigree analysis. A pathogenic variant confirms EEM syndrome molecularly, while a negative result does not exclude all genetic etiologies for ectodermal dysplasia spectrum disorders. Always discuss findings with your treating physician before making any health-related decisions." – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Safety Precautions
Critical Advisory for Patients
Do not discontinue any prescribed medication without consulting your treating physician. Genetic testing is a diagnostic adjunct and should never replace ongoing clinical management or emergency care.
Exclusion Criteria & Emergency Indicators
- Exclusion Criteria: Individuals with acute febrile illness or recent blood transfusion (within 14 days) should postpone collection. Pregnant women must consult their obstetrician before proceeding with genetic testing.
- Emergency Red Flags: Sudden vision loss, severe skin blistering accompanied by fever, or acute limb deformity require immediate emergency department assessment. These symptoms may indicate disease progression requiring urgent intervention and are not related to routine phlebotomy.
Patient FAQ & Clinical Guidance
1. What is the CDH3 gene test and what conditions does it diagnose?
Quick Answer: The CDH3 gene test detects mutations in the P‑cadherin gene responsible for ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM) syndrome.
This test sequences the entire coding region to identify pathogenic variants, helping clinical geneticists confirm the diagnosis and guide multidisciplinary management. It is particularly indicated for individuals with abnormal skin, nail, and hair development, missing fingers or toes, and retinal changes suggestive of macular dystrophy.
2. Why is NGS preferred for suspected ectodermal dysplasia syndrome?
Quick Answer: Next-generation sequencing offers near‑exhaustive coverage of all CDH3 coding exons with superior sensitivity compared to older single‑gene methods.
NGS simultaneously identifies point mutations, small insertions or deletions, and copy number changes, reducing the time to a definitive molecular answer. Coupled with our ISO‑certified workflow, the 99.9% accuracy ensures results that are clinically actionable and reliable for genetic counseling.
3. How is the sample collected and what preparation is required?
Quick Answer: A standard peripheral whole blood sample is collected via venipuncture, ideally after genetic counseling to document the family pedigree.
Our VIP Mobile Phlebotomy service visits between 8 AM and 11 PM, ensuring minimal disruption to your schedule. No fasting is required. We advise avoiding strenuous exercise 24 hours before collection to maintain sample integrity. The specimen is transported under temperature-controlled cold-chain conditions to our ISO-calibrated laboratory for NGS processing.
4. How long does it take to receive results and how are they delivered?
Quick Answer: The turnaround time is 3 to 4 weeks from sample receipt at the laboratory.
Results are delivered electronically via secure portal and discussed during a telephonic consultation with our Consultant Medical Genetics specialist. A hard copy report is also available upon request. All results are accompanied by a detailed interpretation note and recommendations for further clinical action.
5. Is genetic counseling available after the test?
Quick Answer: Yes, telephonic post-test clinical guidance is included in the test price.
Our Consultant Medical Genetics provides a comprehensive discussion of the implications for the patient and family members, recurrence risks, and recommendations for surveillance or preventive measures. Referral to specialized ophthalmology and dermatology services is arranged as needed.
UAE Regulatory & Data Privacy Adherence
This laboratory operates under DHA Facility License Number 1143 and adheres to the highest standards of data protection and clinical safety. All patient data is handled in strict 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 testing safety and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Results are released only to authorized individuals with explicit patient consent. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | CDH3 Gene Sequencing (Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Panel) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) – Full coding region and splice site analysis with CNV detection |
| ICD-10-CM Code | Q82.4 (Ectodermal dysplasia), Q71.6 (Ectrodactyly), H35.38 (Macular dystrophy) |
| LOINC Code | 21665-2 (Sequencing gene mutation detection in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians