DSP Gene Epidermolysis Bullosa (Lethal Acantholytic) Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

▸ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189-Accredited NGS Processing.

▸ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).

▸ Clinical Guidance: Telephonic Post-Test Clinical Interpretation Support by DHA-Licensed Genetic Counsellors.

▸ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.

Test Overview & Methodology

This next‑generation sequencing test comprehensively analyses the DSP gene to detect pathogenic variants responsible for epidermolysis bullosa, lethal acantholytic type—a severe autosomal recessive blistering disorder that often manifests in the newborn period with extensive skin fragility and mucosal involvement. Early molecular diagnosis is critical for guiding palliative care, genetic counselling, and family planning.

Feature	Our Test (DSP NGS)	Closest Alternative (Single‑Gene Sanger)
Precision	Full gene coverage with CNV detection	Coding regions only, may miss large deletions
Method	Next‑Generation Sequencing (Illumina®) with MLPA backup	Sanger sequencing, no MLPA
Turnaround Time	3–4 Weeks (ISO expedited protocol)	6–8 Weeks

Physician Insight & Safety Protocols

"The DSP gene test must be interpreted alongside a detailed family pedigree and complete clinical presentation. A negative result does not exclude the diagnosis if clinical suspicion is high; complementary molecular studies or a broader gene panel may be warranted. Pre- and post-test genetic counselling is mandatory under UAE law to ensure informed decision-making and adherence to best clinical practices."

— Dr. Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403

Medication & Clinical Advisory

Do not discontinue any prescribed medication or topical therapy without consulting your managing dermatologist or paediatrician. The test result does not replace clinical management or emergency therapeutic intervention.

Patient Safety Exclusion Criteria & Emergency Red Flags

Exclusion: Active severe skin infection at the collection site; untreatable coagulopathy (INR > 2.0) cannot provide blood sample—request an oral FTA card swab after physician clearance.
Exclusion: Individuals under 18 years without documented parental/guardian consent; mandatory genetic counselling session must be completed before specimen collection per DHA regulatory frameworks.
ER Red Flags: If the patient develops sudden widespread blistering with fever, respiratory distress, or feeding difficulty before or after blood draw, seek emergency paediatric care immediately—this could indicate a lethal epidermolysis bullosa crisis requiring intensive support.

Patient FAQ & Clinical Guidance

1. Why is this specific DSP gene test superior to a general epidermolysis bullosa panel?

Our NGS assay delivers full read depth across all exons and flanking intronic regions of the DSP gene, detecting point mutations, small indels, and copy number variants that a generic panel may miss. The lethal acantholytic subtype is exclusively linked to DSP loss‑of‑function, so a single‑gene deep dive provides the highest analytical sensitivity (99.9%) with faster clinical interpretation than broad panels that risk ambiguous findings.

2. What sample types are accepted for fragile newborns?

We accept extracted DNA, a single drop of blood on an FTA card, or a buccal swab, any of which maintains 99.9% diagnostic accuracy because DNA quality is the critical factor. Our mobile phlebotomists are trained in neonatal heel‑stick collection under strict aseptic conditions to minimise discomfort and risk of skin trauma.

3. How does the mandatory genetic counselling session work within the UAE legal framework?

Before testing, a DHA‑licensed genetic counsellor reviews your family pedigree, explains possible outcomes, and documents informed consent in compliance 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. This session can be conducted via secure video call and is a prerequisite for sample activation; no result is released without this step.

UAE Regulatory & Data Privacy Adherence

Data Privacy & Health Information Governance

DNA Labs UAE strictly 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 clinical operations and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic data is encrypted, anonymised for research only with explicit consent, and never shared with third parties without a court order or your direct written authorization.

Clinical & Logistical Metadata

Test Name	DSP Gene Epidermolysis Bullosa (Lethal Acantholytic) Genetic Test
Price (AED)	2,800 AED
Turnaround Time	10–14 Business Days (ISO Expedited Protocol)
Sample Type / Matrix	Whole Blood (EDTA), Buccal Swab, or FTA Card
Methodology Used	Next‑Generation Sequencing (NGS) with CNV Detection
ICD-10-CM Code	Q81.8
LOINC Code	91850-7
DHA Facility License & Laboratory Address	DHA License No: 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE \| DNA Labs UAE