Test Price
2,800 AED✅ Home Collection Available
KRT1 Gene Epidermolytic Hyperkeratosis (EHK) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Accuracy: Diagnostic sensitivity exceeding 99.9% through an ISO 9001:2015 accredited processing pipeline for definitive molecular diagnosis of epidermolytic hyperkeratosis.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM for standard blood, FTA card, or extracted DNA specimens.
- Medical Guidance: Complimentary post-test teleconsultation with a consultant medical geneticist to interpret results and guide personalized dermatological management.
- Insurance & Support: Direct insurance coverage verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The KRT1 gene test utilizes a targeted next-generation sequencing (NGS) assay to identify pathogenic mutations within the entire coding region and splice sites of the KRT1 gene, responsible for epidermolytic hyperkeratosis (EHK). This rare autosomal dominant skin fragility disorder requires precise molecular confirmation to differentiate it from other ichthyosis subtypes and to enable accurate genetic counseling, prenatal screening, and personalized therapeutic strategies. Our Illumina® platform delivers a minimum 1000x depth of coverage with >99% uniformity.
| Feature | Our KRT1 NGS Test | Whole Exome Sequencing (WES) |
|---|---|---|
| Methodology | Targeted NGS (Illumina® platform, 1000x depth) | Broad exome capture, variable depth |
| Turnaround Time | 3 to 4 Weeks | 6 to 10 Weeks |
| Price (AED) | 2,800 | ~8,000 – 12,000 |
| Sample Options | Blood, FTA card, Extracted DNA | Blood only (standard) |
| Clinical Focus | KRT1‑specific mutation & EHK diagnosis | Incidental findings; requires separate KRT1 interpretation |
Physician Insight & Safety Protocols
“As a Consultant in Medical Genetics, I emphasize that while this targeted NGS assay is highly sensitive for KRT1 mutations, all genetic findings must be rigorously correlated with the patient’s dermatological phenotype and histopathological examination. A negative result does not exclude other ichthyosis subtypes or non-KRT1-related skin fragility disorders. Patients should not discontinue prescribed emollient therapy or retinoid treatment without consulting their treating physician.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Advisory & Pre-Test Requirements
- Pre-test genetic counseling is mandatory to ensure informed consent and to discuss the implications of potential germline findings for the patient and their biological family members.
- A detailed family pedigree spanning at least three generations must be provided to the genetic counselor prior to sample collection.
Exclusion Criteria & Emergency Red Flags
- Home phlebotomy should be deferred in patients presenting with active febrile skin infections, acute blistering flares, or suspected sepsis; please contact our helpline to reschedule your appointment.
- This genetic test is not a substitute for emergency dermatological care. Seek immediate medical attention if you experience widespread blistering, mucosal involvement, fever, or signs of systemic infection.
Patient FAQ & Clinical Guidance
1. What does the KRT1 genetic test detect?
Answer: This test detects pathogenic mutations in the KRT1 gene responsible for epidermolytic hyperkeratosis (EHK). It provides a definitive molecular diagnosis to distinguish EHK from other ichthyosis subtypes, enabling precise genetic counseling, accurate recurrence risk assessment, and targeted clinical management for affected individuals and their families.
2. How is the sample collected and what is the turnaround time?
Answer: A certified phlebotomist will visit your home or office for a standard blood draw, or you may provide a simple finger-prick FTA card sample. Results for the KRT1 NGS analysis are delivered within 4 weeks from the date the sample is received by our laboratory.
3. Is genetic counseling mandatory before the test?
Answer: Yes, genetic counseling is mandatory prior to testing to ensure fully informed consent and accurate risk assessment. Our dedicated pre-test session includes pedigree analysis, psychosocial support, and insurance navigation, and is included in the cost of the test.
UAE Regulatory & Data Privacy Adherence
- Data Protection: All genomic and personal data are processed in strict compliance with UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Governance: Our digital health infrastructure adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure storage and transmission of medical records.
- Clinical Safety & Consent: Patient safety and informed consent protocols follow the standards outlined in Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accreditation: Processing is conducted under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
Support: WhatsApp +971 54 548 8731
Clinical & Logistical Metadata
| Test Name | KRT1 Gene Epidermolytic Hyperkeratosis (EHK) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood, FTA Card, Extracted DNA |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) – Illumina® Platform |
| ICD-10-CM Code | Q80.3 |
| LOINC Code | 90356-4 |
| DHA Facility License & Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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