Test Price
2,800 AED✅ Home Collection Available
LAMB3 Gene Sequencing (NGS) – Junctional Epidermolysis Bullosa Herlitz Type | 2800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
Diagnostic Accuracy ≥ 99.9% – ISO 9001:2015 certified laboratory (Certificate No. INT/EGQ/2509DA/3139). VIP mobile phlebotomy with temperature-controlled cold-chain home collection, plus complimentary post-test genetic teleconsultation. Direct insurance billing verification via WhatsApp: +971 54 548 8731.
- ✓ Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑accredited NGS with Sanger confirmation for all pathogenic calls.
- ✓ Premium Logistics: Hospital‑grade home collection by DHA‑licensed phlebotomists; ISO‑certified cold‑chain transport safeguards sample integrity from door to lab.
- ✓ Clinical Guidance: Complimentary post‑test tele‑consultation with a consultant medical geneticist to explain results, inheritance risks, and care pathways, aligned with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- ✓ Insurance Support: Direct billing verification and eligibility check via WhatsApp (typical reply within 3 minutes): +971 54 548 8731.
Test Overview & Methodology
The LAMB3 gene sequencing test employs Next‑Generation Sequencing (NGS) to comprehensively analyse all coding exons and flanking splice‑site regions of the LAMB3 gene. Pathogenic variants in LAMB3 are the primary cause of junctional epidermolysis bullosa, Herlitz type — a severe, autosomal recessive skin fragility disorder that typically presents at birth with widespread blistering, mucosal erosions, and a high risk of neonatal mortality due to sepsis, respiratory compromise, and failure to thrive. Our assay achieves full coverage of the gene with a minimum depth of 100×, and all clinically significant variants are independently confirmed by Sanger sequencing. The test is designed for both diagnostic confirmation in symptomatic infants and carrier testing in at‑risk family members.
| Feature | Our LAMB3 NGS Test | Standard Multi‑Gene Panel |
|---|---|---|
| Resolution | Single‑gene, full‑coverage LAMB3 coding regions plus splice sites | Broad panel; may miss deep intronic variants in LAMB3 |
| Methodology | NGS with Sanger verification of all pathogenic calls | NGS only, often with lower coverage for rare genes |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Reporting | Clinically actionable report with zygosity, inheritance pattern, and variant classification per ACMG guidelines | Often generic report without detailed variant interpretation |
Physician Insight & Safety Protocols
“A definitive molecular diagnosis of Herlitz junctional epidermolysis bullosa through LAMB3 sequencing empowers families with precise recurrence risk estimates and guides prenatal testing options. However, the clinical trajectory of this condition is severe, and the genetic result must be interpreted alongside a thorough dermatological and neonatal assessment. I strongly advise that parents receive compassionate, non‑directive genetic counselling before and after testing to prepare for the intensive supportive care that lies ahead.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
⛔ Do not modify or discontinue any prescribed treatment without direct consultation with your physician. Altering a management plan without medical supervision may accelerate skin deterioration, increase infection risk, and lead to life‑threatening complications in infants with suspected epidermolysis bullosa.
Exclusion Criteria & Emergency Red Flags
- Exclusion — Home Collection Not Suitable: Infants with acute skin denudation exceeding 30% body surface area or clinical signs of systemic sepsis require immediate hospital admission; home phlebotomy is deferred.
- Exclusion — Haemodynamic Instability: Blood draw from severely dehydrated or haemodynamically unstable neonates is postponed until medical stabilisation in a hospital setting.
- ER Red Flag: Sudden onset of stridor, hoarse cry, or respiratory distress in an infant with suspected junctional EB — this may indicate airway blistering; immediate emergency department attendance is essential.
- ER Red Flag: Worsening blistering accompanied by fever, lethargy, or poor feeding — these signs may herald superimposed bacterial sepsis; seek urgent paediatric care without delay.
- Legal & Ethical Safeguard: Under UAE Child Rights Law (Wadeema’s Law) and Federal Decree‑Law No. 4 of 2016 on Medical Liability, genetic testing in minors requires explicit, informed parental consent and documented clinical necessity.
Patient FAQ & Clinical Guidance
1. What does a positive LAMB3 gene mutation mean for my newborn?
A pathogenic variant in LAMB3 confirms Herlitz junctional epidermolysis bullosa — an autosomal recessive disorder that causes widespread skin and mucosal blistering from birth. This genetic finding typically predicts a severe clinical course with high neonatal morbidity and mortality due to infection, malnutrition, and airway involvement. Immediate multidisciplinary care is essential: a paediatric dermatologist, medical geneticist, and palliative care team should collaborate to provide comfort‑focused management, wound care, nutritional support, and honest prognostic discussions with the family.
2. How do I prepare for the LAMB3 genetic test in the UAE?
A mandatory pre‑test genetic counselling session is required to construct a detailed three‑generation pedigree and review the child’s clinical history. On collection day, our DHA‑licensed phlebotomist visits your home (8 AM–11 PM) to obtain a peripheral venous blood sample in an EDTA tube or a DNA FTA card. No fasting is needed. Please have prior medical records available, and ensure the child’s guardian signs the informed consent form, as mandated by Federal Decree‑Law No. 4 of 2016 on Medical Liability.
3. Is the LAMB3 gene test covered by insurance, and what is the total cost?
The LAMB3 gene sequencing test costs 2,800 AED. Many UAE health insurance plans cover genetic testing for suspected junctional epidermolysis bullosa when prior approval is obtained. Our team provides direct billing verification via WhatsApp at +971 54 548 8731 — we confirm eligibility within minutes. All personal 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 on health ICT. The laboratory holds ISO 9001:2015 certification (INT/EGQ/2509DA/3139), guaranteeing quality and confidentiality.
4. How long does it take to receive the results, and how will they be delivered?
The standard turnaround time is 3 to 4 weeks from sample receipt at our Dubai Healthcare City laboratory. Results are issued as a comprehensive PDF genetic report that includes variant classification, zygosity, inheritance pattern, and clinical interpretation. A consultant medical geneticist then schedules a complimentary tele‑consultation to walk you through the findings, answer your questions, and coordinate referrals to specialist services as needed.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance. DNA Labs UAE handles all patient data in strict accordance 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. These frameworks mandate encrypted storage, restricted access, and explicit consent for the collection, processing, and sharing of genetic and clinical information. Clinical safety and patient consent procedures follow Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring that every test order is medically justified and that guardians receive comprehensive pre‑test counselling. Our laboratory holds DHA Facility License No. 1143 and is ISO 9001:2015 certified (INT/EGQ/2509DA/3139), reflecting our commitment to the highest standards of quality, security, and regulatory compliance in the UAE healthcare sector.
Clinical & Logistical Metadata
| Test Name | LAMB3 Gene Sequencing (NGS) – Junctional Epidermolysis Bullosa Herlitz Type |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) or DNA FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | Q81.1 |
| LOINC Code | 81265-3 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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