Test Price
2,800 AED✅ Home Collection Available
LAMC2 Gene Sequencing for Junctional Epidermolysis Bullosa – Genetic Test in UAE | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Diagnostic Precision: Next-generation sequencing with confirmatory Sanger sequencing achieves 99.9% analytical sensitivity for SNV, indel, and CNV detection across all LAMC2 exons.
- Premium Home Collection: VIP mobile phlebotomy with temperature-controlled cold-chain logistics available daily from 8 AM to 11 PM.
- Clinical Guidance: Mandatory pre-test and post-test genetic counselling with a DHA-licensed consultant medical geneticist.
- Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731.
- Accreditation: ISO 9001:2015 certified laboratory (Cert: INT/EGQ/2509DA/3139) operating under DHA Facility License No. 1143.
Test Overview & Methodology
This molecular diagnostic assay utilises next-generation sequencing (NGS) on an Illumina platform to perform comprehensive sequencing of the entire coding region and exon-intron boundaries of the LAMC2 gene. The test is designed to detect pathogenic and likely pathogenic variants associated with Junctional Epidermolysis Bullosa (Herlitz type), a severe autosomal recessive skin fragility disorder characterised by blistering, erosions, and systemic complications. All clinically significant variants are confirmed by Sanger sequencing to ensure diagnostic accuracy. The test supports index case diagnosis, carrier screening, and prenatal planning in at-risk families.
Pre-Test Requirements
- Comprehensive clinical history and three-generation family pedigree documenting any history of epidermolysis bullosa.
- Mandatory pre-test genetic counselling session to review implications, recurrence risks, and obtain informed consent.
- Sample types accepted: peripheral whole blood (EDTA tube), extracted genomic DNA, or FTA card spot.
- Avoid heparin anticoagulants; no fasting or special dietary preparation required.
| Feature |
Our Test (DNA Labs UAE – Advanced Genomics) |
Closest Alternative (Single-Gene Sanger Sequencing) |
|---|---|---|
| Precision | NGS with confirmatory Sanger sequencing – detects SNVs, indels, and CNVs across all exons and splice sites | Sanger sequencing of selected exons only; may miss deep intronic variants, large deletions, or duplications |
| Methodology | Next-generation sequencing (Illumina platform) with clinical-grade bioinformatics pipeline and orthogonal confirmation | Conventional Sanger sequencing – lower throughput, higher manual analysis time, limited multiplexing |
| Turnaround Time | 3 to 4 weeks (includes variant interpretation, ACMG classification, and clinical report generation) | 6 to 8 weeks, frequently extended by reflexive re-analysis of additional exons |
| Clinical Support | Integrated genetic counselling before and after testing with a DHA-licensed consultant medical geneticist | Limited or no formal counselling support included in the base service |
Physician Insight & Safety Protocols
“This LAMC2 gene sequencing test represents a critical diagnostic tool for families affected by Junctional Epidermolysis Bullosa. The comprehensive NGS approach ensures that even mosaic or low-level pathogenic variants are captured, providing definitive molecular confirmation that guides prognosis, management, and reproductive counselling. I emphasise that the result must always be correlated with the clinical phenotype and interpreted within the family pedigree context by a qualified genetics professional.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Guidance
Important Clinical Advisory:
This genetic test is intended for diagnostic confirmation and carrier assessment only. It does not replace ongoing dermatologic surveillance, wound care, or multidisciplinary management. Patients should continue all prescribed treatments and attend scheduled follow-up appointments. Any changes to medication or care plans must be made under the supervision of the treating physician.
Safety & Exclusion Criteria
Absolute Exclusion Criteria:
- Severe coagulopathy or bleeding diathesis contraindicating venipuncture.
- Inability or unwillingness to participate in mandatory pre-test genetic counselling and provide informed consent.
- Active sepsis or systemic infection that may compromise sample integrity.
Emergency Red Flags – Seek Immediate Medical Attention:
- Sudden, widespread blistering accompanied by fever, lethargy, or respiratory distress.
- Difficulty swallowing, stridor, or signs of upper airway compromise.
- Rapid deterioration in an infant with extensive skin loss and poor feeding.
- Signs of sepsis: confusion, tachycardia, hypotension, or hypothermia.
Patient FAQ & Clinical Guidance
1. What is the LAMC2 gene test and why is it performed?
The LAMC2 gene sequencing test detects disease-causing mutations responsible for Junctional Epidermolysis Bullosa (Herlitz type), enabling precise molecular diagnosis, carrier detection, and informed reproductive planning. This test analyses all coding exons and intronic boundaries of the LAMC2 gene using next-generation sequencing technology. It is indicated when a patient presents with clinical features suggestive of junctional epidermolysis bullosa, including skin fragility, blistering from minor trauma, nail dystrophy, and oral or oesophageal involvement. The test differentiates this subtype from other forms of epidermolysis bullosa and provides definitive genetic confirmation for multidisciplinary management.
2. How is the sample collected and what should I expect?
A trained phlebotomist collects a small venous blood sample into an EDTA tube, or a few drops of blood may be obtained via finger prick onto an FTA card. Both methods are minimally invasive and cause only brief, mild discomfort. Our VIP mobile phlebotomy service follows ISO-certified cold-chain protocols and is available daily from 8 AM to 11 PM for home collection. The procedure takes less than five minutes. Experienced phlebotomists take special care when working with fragile or blistered skin. No fasting or other preparation is required.
3. How long does it take to receive results and what does the report include?
Results are typically available within 3 to 4 weeks from sample receipt, and the comprehensive report includes full variant interpretation with ACMG classification. The report details each detected LAMC2 variant, its zygosity, pathogenicity classification, and clinical correlation. It also provides recurrence risk estimates for the family and specific recommendations for cascade testing of at-risk relatives. A post-test teleconsultation with a DHA-licensed consultant medical geneticist is included to review the findings, answer questions, and guide next steps in care and family planning.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance Framework
This test and all associated data handling procedures comply with the following UAE federal legislation:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, processing, and storage of personal and genetic data with explicit consent and confidentiality obligations.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating the secure transmission and electronic storage of health information.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – establishing standards for clinical safety, patient consent, and professional accountability in diagnostic testing.
All genetic data are processed on DHA-compliant servers with strict access controls and encryption. No data is shared with third parties without the patient's explicit written consent. The laboratory holds ISO 9001:2015 certification and operates under DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | LAMC2 Gene Sequencing for Junctional Epidermolysis Bullosa |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube), extracted genomic DNA, or FTA card specimen |
| Methodology Used | Next-Generation Sequencing (NGS) with confirmatory Sanger sequencing |
| ICD-10-CM Code | Q81.1 |
| LOINC Code | 21663-7 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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