Test Price
2,800 AED✅ Home Collection Available
ITGB4 Gene Epidermolysis Bullosa Junctionalis with Pyloric Atresia Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Clinical Excellence & Patient-Centric Logistics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS 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 with a DHA-licensed genetic counsellor.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) panel specifically analyses the entire coding region of the ITGB4 gene to confirm or rule out Junctional Epidermolysis Bullosa with Pyloric Atresia (EBJ-PA), a severe autosomal recessive disorder. The test provides precise molecular diagnosis to guide surgical planning and genetic counselling.
| Feature | Our NGS Test (ISO 9001:2015) | Closest Regional Alternative |
|---|---|---|
| Precision | 99.9% Analytical Sensitivity & Specificity | ~95% via older Sanger single-exon screening |
| Methodology | Illumina NovaSeq X Plus (2026 Verified) | Legacy PCR-based panels, longer TAT |
| Turnaround Time | 18–21 Working Days (Expedited available) | 4–6 Weeks |
Physician Insight & Safety Protocols
“This molecular genetic test is essential for confirming the diagnosis of junctional epidermolysis bullosa with pyloric atresia. A negative result does not exclude other EB subtypes; therefore, comprehensive genetic counselling and multidisciplinary care are mandatory. Early detection enables timely surgical intervention for pyloric atresia, which can be lifesaving. I strongly advise that results be interpreted in the full context of the clinical phenotype and family pedigree.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre-Test Advisory
Do not discontinue any prescribed medication or life-sustaining treatment (including intravenous nutrition or surgical care) based on genetic results without consulting the managing physician. Continue all current therapies until directed otherwise by a qualified healthcare provider. Genetic findings are complementary to, not a replacement for, clinical management.
Patient Safety: Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability to provide informed consent for genetic testing on minors per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability. Written consent from a legal guardian is mandatory.
- Exclusion: Unsuitable sample (hemolyzed or clotted blood); a recollection will be arranged at no extra cost.
- Emergency Red Flag: If a newborn shows projectile vomiting, dehydration, or failure to thrive alongside skin blisters, proceed immediately to the emergency department. Do not wait for genetic test results.
Patient FAQ & Clinical Guidance
1. What is the clinical purpose of the ITGB4 NGS test and how does it impact my child’s care?
This test directly determines whether pathogenic variants in the ITGB4 gene are the cause of your child’s junctional epidermolysis bullosa and pyloric atresia, enabling precise genetic counselling and early surgical planning. A positive result clarifies prognosis and recurrence risk for future pregnancies, while a negative result prompts investigation of alternative genes.
2. How is the sample collected and does the lab comply with UAE data privacy laws?
A small drop of blood on an FTA card or 3 mL whole blood is collected by our DHA-licensed phlebotomist during a home visit. All genetic data is processed in 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 ICT in health fields. Your child’s genomic information is never shared without explicit, written consent, and the sample is destroyed after the mandated retention period.
3. What are the next steps after receiving the test result?
Upon result delivery, you receive a complimentary 30‑minute telephonic post‑test counselling session with a clinical geneticist who explains the molecular findings and coordinates with your pediatric dermatologist and surgeon. If a variant of uncertain significance (VUS) is identified, family studies and functional analysis can be arranged within our ISO-certified pathway.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed under the regulatory framework of the Dubai Health Authority (DHA) and complies with UAE federal laws governing personal data and health information. Patient genetic data is protected under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 concerning the use of ICT in health fields. All results are confidential and shared only with the patient or authorized healthcare providers. The laboratory maintains ISO 9001:2015 certification for quality management.
Clinical & Logistical Metadata
| Test Name | ITGB4 Gene Sequencing for Junctional Epidermolysis Bullosa with Pyloric Atresia |
| Price (AED) | 2,800 AED |
| Turnaround Time | 18–21 Working Days |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq X Plus |
| ICD-10-CM Code | Q81.8 |
| LOINC Code | 49757-6 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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