Test Price
2,800 AED✅ Home Collection Available
UBR1 Gene Johanson‑Blizzard Syndrome Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
✅ Accuracy Guarantee
99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing
✅ Premium Logistics
VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM)
✅ Clinical Guidance
Post‑test telephonic clinical guidance for result interpretation by experienced genetic counsellors
✅ Insurance
Direct Billing Verification via WhatsApp: +971 54 548 8731
Test Overview & Methodology
The UBR1 Gene Johanson‑Blizzard Syndrome NGS test performs full‑gene Next‑Generation Sequencing to identify pathogenic variants causing this rare autosomal recessive disorder. It provides a definitive molecular diagnosis for patients presenting with congenital pancreatic insufficiency, liver dysfunction, renal anomalies, and endocrine deficits.
| Feature | Our Test – NGS Full Gene Sequencing | Closest Alternative – Sanger Sequencing (Selected Exons) |
|---|---|---|
| Precision | 99.9% sensitivity; complete coding region + splice sites | ~95% coverage; may miss deep intronic or novel mutations |
| Method | Next‑Generation Sequencing (NGS) on Illumina platform | Sanger sequencing of exon‑by‑exon amplicons |
| Turnaround | 3 to 4 weeks | 6 to 8 weeks |
| Accreditation | ISO 9001:2015 certified laboratory (Cert: INT/EGQ/2509DA/3139) | Often not ISO‑accredited |
Physician Insight & Safety Protocols
As a consultant medical genetics expert, I understand the anxiety families face when considering testing for Johanson‑Blizzard syndrome. This NGS test delivers precise diagnostic clarity, but it must be correlated with clinical findings and a thorough genetic counselling session.
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
Do not discontinue prescribed medication or management without consulting your doctor. Always correlate genetic results with clinical presentation and seek expert interpretation.
Exclusion Criteria & Emergency Red Flags
- Patients who received an allogeneic bone marrow transplant within the last 6 months (donor DNA may interfere).
- Individuals unable to provide informed consent or lacking a documented three‑generation pedigree.
- ⚠️ If the patient is experiencing acute pancreatitis, severe hypoglycemia, or liver failure, seek emergency care immediately (call 998). Genetic testing should only proceed after stabilization.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of UBR1 gene testing?
This test identifies pathogenic UBR1 mutations to confirm Johanson‑Blizzard syndrome, enabling tailored endocrine and nutritional care. A positive result guides pancreatic enzyme replacement, growth monitoring, and early intervention by a paediatric endocrinologist. Negative results rule out UBR1‑related disease, potentially redirecting the diagnostic work‑up.
2. How is the sample collected?
A painless blood draw or a single drop on an FTA card is collected at‑home by licensed phlebotomists. Our DHA‑certified team arrives with ISO‑validated cold‑chain kits to preserve DNA integrity. The procedure takes less than 10 minutes and is suitable for infants and children.
3. What is the turnaround time?
Results are delivered in 3‑4 weeks, with comprehensive genetic counselling and a detailed clinical report. The report includes variant classification (ACMG guidelines), clinical correlation, and recommendations for family screening. An urgent interpretation by telephone is available upon request.
UAE Regulatory & Data Privacy Adherence
Healthcare Compliance & Data Protection
This test is performed in strict adherence to 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 handled with full encryption and informed consent protocols. Laboratory operations are covered by ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and DHA facility license number 1143. For queries, contact our Data Protection Officer via WhatsApp +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | UBR1 Gene Johanson‑Blizzard Syndrome Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral blood or Buccal swab (FTA card) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full gene analysis |
| ICD‑10‑CM Code | Q87.8 |
| LOINC Code | 21634-6 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians