Test Price
2,800 AED✅ Home Collection Available
EBP Gene Sequencing (Chondrodysplasia Punctata, CDPX2) Genetic Test in Dubai
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing, verified by external proficiency testing.
- 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 interpretation by a DHA-licensed Consultant Medical Geneticist, aligning results with your personal and family history.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731 before your appointment.
Test Overview & Methodology
The EBP Gene Chondrodysplasia Punctata (CDPX2) test detects pathogenic variants in the EBP gene using high-coverage Next-Generation Sequencing, confirming a clinical diagnosis of X-linked dominant chondrodysplasia punctata. This analysis is essential for dermatologists, clinical geneticists, and paediatricians managing asymmetric skeletal anomalies, ichthyosiform skin changes, and developmental delay.
| Feature | Our CDPX2 NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Detection Method | Full gene NGS with copy number analysis | Targeted single-exon Sanger |
| Turnaround Time | 3–4 weeks (ISO cold-chain) | 6–8 weeks |
| Clinical Utility | Detects >99% of known pathogenic variants + novel variants | Misses large deletions, duplications, deep intronic mutations |
Physician Insight & Safety Protocols
A Note from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
A positive EBP mutation provides a molecular confirmation of chondrodysplasia punctata, yet clinical correlation with radiological imaging and dermatological findings remains indispensable. Even with a negative result, persistent clinical suspicion should prompt consideration of broader genomic or biochemical investigations. Genetic findings complement but never replace comprehensive physical examination and multidisciplinary follow-up.
Exclusion Criteria & ER Red Flags
- Exclusion: Inability to provide a venous blood sample or FTA card; extensive blood transfusions within 90 days may mask endogenous DNA.
- Red Flag – seek immediate emergency care: New onset of severe respiratory distress, seizures, or sudden deterioration of skeletal deformities irrespective of test timing.
- Minors: Genetic testing of children requires explicit consent under Federal Decree-Law No. 4 of 2016 on Medical Liability and must be accompanied by a court-approved guardian unless a life-threatening emergency applies.
Patient FAQ & Clinical Guidance
1. What does the EBP CDPX2 NGS test actually diagnose?
Snippet-killer answer: This test confirms X-linked dominant chondrodysplasia punctata by sequencing the entire EBP gene, detecting single-nucleotide variants, insertions, deletions, and exon-level copy number changes that cause the disorder.
It is the definitive molecular assay for individuals with classic epiphyseal stippling, asymmetric limb shortening, and congenital cataracts, especially when a family history suggests an X-linked pattern. A positive result guides management by dermatology, orthopaedics, and genetics, while a negative result may prompt broader genomic testing.
2. How should I prepare for the sample collection and is home service available?
Snippet-killer answer: You do not need to fast; simply provide a 3–5 mL whole blood sample in an EDTA tube or a dried blood spot on an FTA card, collected by our DHA-licensed mobile phlebotomist at your chosen location between 8 AM and 11 PM.
The cold-chain courier ensures sample stability throughout the 3-to-4-week processing period. If you have received a blood transfusion or stem cell therapy within the last three months, please inform our team so we can advise on timing or alternative DNA sources.
3. Can my results be used legally for custody or inheritance cases in the UAE?
Snippet-killer answer: Yes, our DHA-accredited report is admissible in UAE courts under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), provided the chain of custody and ISO 9001:2015 certification markers are intact.
We strictly follow UAE PDPL for data privacy; your genetic information is encrypted and only released upon signed consent. For legal purposes, we recommend involving a genetics-aware legal professional to ensure the report meets specific court requirements.
UAE Regulatory & Data Privacy Adherence
This genetic test and all associated data handling 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 and clinical safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic data remains encrypted, access-controlled, and released only upon your explicit written consent.
Clinical & Logistical Metadata
| Test Name | EBP Gene Sequencing (Chondrodysplasia Punctata, CDPX2) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA Card Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) with Copy Number Variation (CNV) Analysis |
| ICD-10-CM Code | Q77.3 |
| LOINC Code | 81247-9 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians