Test Price
2,800 AED✅ Home Collection Available
DSP Gene NGS Test for Dilated Cardiomyopathy, Woolly Hair, Keratoderma & Tooth Agenesis in UAE
2800 AED | DHA-Licensed Genetic Test
Executive Summary & Core Metrics
- ● Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015‑certified NGS processing, covering the full DSP coding region.
- ● Premium Logistics: Complimentary VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection, available daily from 8 AM to 11 PM.
- ● Clinical Guidance: Complimentary post‑test telephonic interpretation by a DHA‑licensed clinical genetic counsellor, ensuring actionable understanding of your results.
- ● Insurance: Direct billing verification and pre‑approval assistance via WhatsApp +971 54 548 8731.
- ● Facility: DNA Labs UAE – DHA Facility License 1143, Dubai Healthcare City.
Test Overview & Methodology
This advanced NGS test analyses the entire coding region of the DSP gene to detect pathogenic variants linked to a unique syndromic triad: dilated cardiomyopathy, woolly hair with palmoplantar keratoderma, and tooth agenesis (often known as Carvajal syndrome). In the UAE, the test is processed in a DHA‑licensed, ISO‑certified facility, returning clinically actionable results within 3‑4 weeks. Early identification of a pathogenic DSP variant enables cascade family screening, implantable cardioverter‑defibrillator planning, and coordinated dermatological and dental management, significantly reducing the risk of sudden cardiac death.
| Feature | Our Test (DHA‑Approved NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% analytical sensitivity for SNVs, indels; copy number variants detected | ~95% sensitivity for point mutations only; limited CNV detection |
| Methodology | NGS (Next‑Generation Sequencing) with full bioinformatic validation | Conventional Sanger sequencing of exons |
| Turnaround Time | 3‑4 weeks | 6‑8 weeks |
| Comprehensiveness | Covers exons, splice sites, and deep intronic hotspots | Only targeted exons; may miss large rearrangements |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Geneticist, I have seen how a confirmed DSP mutation transforms surveillance and family screening. This test is not a standalone verdict – it must be correlated with echocardiography, dermatological exam, and dental history. A positive result guides early intervention and cascade testing for at‑risk relatives, not panic. Always maintain prescribed therapies and consult your specialist before any medication changes.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
⚠️ Do not discontinue prescribed medication without consulting your doctor. This test is diagnostic, not therapeutic – sudden cessation of cardiovascular drugs can precipitate acute heart failure. Continue all current treatments and discuss results with your cardiologist before making any adjustments.
Exclusion Criteria
- Patients who have received an allogeneic bone marrow transplant (donor DNA interferes with germline variant calling).
- Severe haemolysis or clotted sample; recollect fresh blood in EDTA tube.
- Individuals unable to provide informed consent without an authorised legal guardian.
- Active severe infection with high fever – phlebotomy deferred until stable.
Patient FAQ & Clinical Guidance
1. What is the DSP gene test and why is it important for my family?
Snippet answer: This test sequences the full coding region of the desmoplakin (DSP) gene to identify disease‑causing variants that cause dilated cardiomyopathy, woolly hair, keratoderma, and missing teeth – a multisystem disorder requiring cardiac monitoring even before symptoms appear. A positive result allows cascade screening of at‑risk relatives, implantable cardioverter‑defibrillator planning, and dermatological/dental management, drastically reducing sudden cardiac death risk.
2. How is the sample collected and what are the pre‑test requirements?
Snippet answer: A simple blood draw (EDTA tube), extracted DNA, or a single drop of blood on an FTA card is collected by our DHA‑licensed phlebotomist during a scheduled home visit. A pre‑genetic counselling session constructs your pedigree chart and clinical history. No fasting is required; however, patients must provide details of family cardiac events and names of affected relatives for accurate interpretation.
3. What do the results mean and how are they relayed?
Snippet answer: Results are delivered as a comprehensive clinical report classifying variants as pathogenic, likely pathogenic, or variant of uncertain significance, followed by a one‑on‑one telephonic session with a clinical genetic counsellor who explains the implications and next medical steps. A negative result does not exclude other genetic cardiomyopathies; further evaluation by your cardiologist remains essential. All data is handled under UAE Federal Decree‑Law No. 45 of 2021 (PDPL) and Federal Law No. 2 of 2019.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Compliance
This genetic test is performed in full 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. All genomic data is encrypted, stored on UAE‑based servers, and accessible only to authorised healthcare providers. Clinical safety and patient consent adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. Your privacy and data integrity are fundamental to our laboratory operations.
DNA Labs UAE holds DHA Facility License number 1143 and operates under ISO 9001:2015 quality management standards.
Clinical & Logistical Metadata
| Test Name | DSP Gene NGS Test – Dilated Cardiomyopathy, Woolly Hair, Keratoderma & Tooth Agenesis |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA), extracted DNA, or FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) |
| ICD-10-CM Code | I42.0, Q84.2, L85.2 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians