Test Price
2,800 AED✅ Home Collection Available
PLEC Gene Epidermolysis Bullosa Simplex with Muscular Dystrophy Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
99.9% Diagnostic Accuracy via ISO-certified processing. Premium VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Telephonic Post-Test Clinical Guidance by Consultant Medical Genetics. Direct Insurance Billing via WhatsApp +971545488731.
Test Overview & Methodology
The PLEC Gene Epidermolysis Bullosa Simplex with Muscular Dystrophy Genetic Test utilizes Next-Generation Sequencing (NGS) to analyze the entire coding region of the PLEC gene, detecting pathogenic variants linked to this rare autosomal recessive disorder. It combines dermatological and neuromuscular insights to provide a definitive molecular diagnosis, guiding clinical management and family planning.
| Feature | Our NGS Test | Traditional Sanger Sequencing |
|---|---|---|
| Precision | 99.9% analytical sensitivity, full gene coverage | Limited to known hot-spot mutations, lower breadth |
| Methodology | Next-Generation Sequencing (Illumina) with Sanger confirmation | Bidirectional Sanger sequencing of select exons |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403), advises: “A positive PLEC mutation report confirms the genetic diagnosis but must be correlated with clinical presentation by a neurologist and dermatologist. Genetic counselling is essential to understand the autosomal recessive inheritance and implications for family members.”
Advisory Precautions
Do not discontinue any prescribed medication without consulting your doctor. Pre-test genetic counselling is mandatory to review family history and inheritance patterns. Inform your physician about all current medications and supplements.
Exclusion Criteria & Emergency Red Flags
- Minors (under 18) must have written parental consent and comply with UAE Child Protection Law (Wadeema’s Law) and applicable federal data protection regulations.
- Inability to provide informed consent due to cognitive impairment or acute psychiatric crisis.
- Unwillingness to undergo pre-test genetic counselling.
- Severe anemia (Hb < 7 g/dL) in whole blood collection – consider DNA card option.
- Emergency Red Flags: New onset respiratory difficulty, acute severe muscle weakness, extensive blistering with signs of infection (fever, pus) – seek immediate emergency care; do not delay for test results.
Patient FAQ & Clinical Guidance
1. What is the PLEC Gene Epidermolysis Bullosa Simplex with Muscular Dystrophy Genetic Test?
Snippet: The test sequences the entire PLEC gene to identify disease-causing mutations for epidermolysis bullosa simplex with muscular dystrophy, ensuring accurate molecular diagnosis and informing patient management and genetic counseling.
It uses a blood or DNA sample and next-generation sequencing to detect point mutations, small insertions/deletions, and copy number variations across all coding exons. Results are interpreted by clinical geneticists and reported with the pathogenicity of each variant.
2. How should I prepare for this genetic test?
Snippet: Fasting is not required; however, you must attend a genetic counselling session to draw a family pedigree chart prior to sample collection, and avoid discontinuing any prescribed medications without physician approval.
Provide a detailed personal and family medical history. For whole blood samples, no special preparation is needed; for DNA FTA card, a few drops of blood from a finger prick are collected at home by our certified phlebotomist.
3. What does a positive PLEC mutation result mean?
Snippet: A positive result confirms the presence of a disease-causing PLEC gene variant, establishing a molecular diagnosis and guiding surveillance for dermatologic and neuromuscular complications; however, clinical severity may vary.
It does not predict the exact age of onset or progression; regular follow-ups with a neurologist and dermatologist are essential. Genetic counselling will explain implications for siblings and future pregnancies.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License 1143 and adheres 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 strict confidentiality and in compliance with UAE health data protection frameworks.
Clinical & Logistical Metadata
| Test Name | PLEC Gene Epidermolysis Bullosa Simplex with Muscular Dystrophy Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or DNA FTA Card |
| Methodology Used | Next-Generation Sequencing (Illumina) with Sanger confirmation |
| ICD-10-CM Code | Q81.0 (Epidermolysis bullosa simplex), G71.0 (Muscular dystrophy) |
| LOINC Code | 21636-6 (DNA sequencing) |
| DHA Facility License & Laboratory Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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