Test Price

2,800 AED

✅ Home Collection Available

PLEC Gene Sequencing (EBS‑PA) – NGS Diagnostic Confirmation in UAE | AED 2,800

Executive Summary & Core Metrics

This Next‑Generation Sequencing (NGS) assay interrogates the entire coding region and flanking splice sites of the PLEC gene to confirm or exclude a diagnosis of Epidermolysis Bullosa Simplex with Pyloric Atresia (EBS‑PA), a rare autosomal recessive disorder. The test delivers ≥99.9% analytical sensitivity and specificity under an ISO‑accredited quality management system. All genetic data are handled in compliance with UAE 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.

Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑accredited processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (available daily 8 AM – 11 PM).
Clinical Guidance: Telephonic post‑test genetic counselling included.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The PLEC Gene Sequencing test utilises a targeted NGS panel on the Illumina® platform with bioinformatic copy‑number variant (CNV) calling. It covers all coding exons, intron‑exon boundaries ±20 base pairs, and known pathogenic deep intronic regions. A positive result identifies biallelic pathogenic variants confirming EBS‑PA; a negative result reduces but does not eliminate the possibility of other inherited blistering disorders, warranting broader genetic evaluation if clinical suspicion remains high.

Feature	Our Test (PLEC NGS)	Closest Alternative (Sanger Sequencing)
Precision	≥99.9 % analytical sensitivity & specificity; full coding region ±20 bp splice sites	~99.0 %; limited to targeted amplicons, may miss deep intronic/regulatory variants
Method	NGS (Illumina® platform) with bioinformatics CNV calling	Dideoxy (Sanger) sequencing – single exon focus
Turnaround Time	22–28 business days	6–8 weeks (if ordering multiple exons)
Sample Requirement	3–5 mL whole blood (EDTA), extracted genomic DNA, or FTA card	Whole blood or genomic DNA (≥2 µg)
Price (AED)	2,800	1,800 – 2,200 (per gene region)

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics, I emphasise that a positive PLEC gene variant must always be correlated with the full clinical phenotype and three‑generation family history. EBS‑PA follows an autosomal recessive inheritance pattern; therefore, carrier testing for parents and formal genetic counselling are essential components of the diagnostic pathway. A negative NGS result reduces but does not eliminate the possibility of other inherited epidermolysis bullosa subtypes, and a broader hereditary blistering disorders panel should be considered if clinical suspicion persists.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory – Medication & Collection Precautions

Do not discontinue any prescribed medication (e.g., systemic corticosteroids, proton pump inhibitors) without consulting your treating physician. Blood‑thinning agents (aspirin, clopidogrel, warfarin) may need to be paused only under medical supervision prior to venipuncture. Inform the phlebotomist of all current medications and supplements during the home collection appointment.

Exclusion Criteria & Emergency Red Flags

Exclusion: Acute febrile illness (≥38.5 °C), active systemic infection, blood transfusion within the preceding 14 days, or ongoing anticoagulation that cannot be safely interrupted.
Emergency Red Flags: If the patient (especially an infant) develops severe blistering with signs of secondary infection, projectile vomiting, abdominal distension, or dehydration, seek immediate emergency medical attention. Do not delay for test results.
Pregnancy: Pregnant women may undergo the test; prenatal diagnosis via chorionic villus sampling or amniocentesis requires an invasive procedure arranged separately through a maternal‑fetal medicine specialist.

Patient FAQ & Clinical Guidance

1. What is PLEC gene testing for Epidermolysis Bullosa Simplex with Pyloric Atresia?

This NGS test analyses the entire coding region of the PLEC gene to detect biallelic pathogenic mutations that cause the autosomal recessive disorder characterised by skin fragility and congenital pyloric atresia.

2. How should I prepare for the home sample collection?

Fasting is not required. Inform the ISO‑certified nurse of all medications, especially anticoagulants. A standard venipuncture draws 3–5 mL of whole blood into an EDTA tube; the cold‑chain transport maintains sample integrity from your door to the laboratory.

3. Who must provide consent for a minor undergoing this genetic test in the UAE?

Under Federal Decree‑Law No. 4 of 2016 on Medical Liability, both parents or the legal guardian must sign a written informed consent form. The child’s assent is also required if the patient is aged 12 years or older and cognitively capable.

4. Will my genetic data be kept private?

Yes. All genetic sequence data are encrypted and stored on UAE‑based servers in full compliance with Federal Decree‑Law No. 45 of 2021 (PDPL) and Federal Law No. 2 of 2019. Results are shared only with you and your referring physician after identity verification.

5. What does a negative result mean for my family?

A negative result significantly reduces the likelihood of EBS‑PA caused by PLEC mutations, but it does not rule out other forms of inherited epidermolysis bullosa. Your genetic counsellor may recommend a broader panel if the clinical phenotype remains suggestive.

UAE Regulatory & Data Privacy Adherence

This diagnostic service is provided by DNA Labs UAE under DHA Facility License No. 1143 and adheres to the federal data protection framework set forth by 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 information is treated as highly sensitive health data; access is strictly limited to authorised clinical personnel, and results are transmitted via encrypted channels only. The laboratory holds ISO 9001:2015 certification (Cert. No. INT/EGQ/2509DA/3139) and participates in external quality assessment schemes for molecular genetics.

Clinical & Logistical Metadata

Test Name	PLEC Gene Sequencing (Epidermolysis Bullosa Simplex with Pyloric Atresia – EBS‑PA)
Price (AED)	2,800
Turnaround Time	22–28 business days
Sample Type / Matrix	Whole Blood (EDTA), Extracted Genomic DNA, or FTA Card
Methodology Used	Next‑Generation Sequencing (NGS) – Illumina® Platform with Bioinformatic CNV Calling
ICD‑10‑CM Code	Epidermolysis bullosa simplex (Q81.0); Congenital pyloric atresia (Q40.0)
LOINC Code	82939-0 (DNA sequence analysis)
DHA Facility License & Laboratory Address	DHA License No. 1143 \| DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

دعم ثنائي اللغة متاح

التحقق من التغطية التأمينية

Check Insurance Coverage Instantly

Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.

توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.

✅ DHA Certified ✅ ISO 15189 ✅ HIPAA Compliant

💬 التحقق عبر الواتساب Verify via WhatsApp 📞 Call Team

Available in Arabic, English, Hindi & Urdu

🏅

ISMS 27001:2022

📋

ISO Accredited

🔒

HIPAA

All reports reviewed by DHA-Certified physicians

Related Tests

Genetic Sequencing