Test Price
2,800 AED✅ Home Collection Available
DKC1 Gene Sequencing for Hoyeraal-Hreidarsson Syndrome – Molecular Diagnosis in Dubai, UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing
Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection across the UAE, available daily from 8 AM to 11 PM. Clinical Guidance: Telephonic post-test genetic counselling and result interpretation by a board-certified medical geneticist. Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Core Metrics: Price 2,800 AED | Turnaround 3–4 Weeks | Methodology: Targeted Next Generation Sequencing (NGS) | DHA Facility License: 1143
Test Overview & Methodology
The DKC1 gene sequencing test employs targeted Next Generation Sequencing (NGS) on Illumina platforms to detect pathogenic variants in the DKC1 gene, providing a definitive molecular diagnosis for Hoyeraal-Hreidarsson syndrome—a rare, severe multisystem disorder. This analysis enables precise clinical management, informed family planning, and expert genetic counselling. The specimen required is a peripheral blood sample, extracted DNA, or a dried blood spot on an FTA card. No fasting is required; inform the phlebotomist of any anticoagulant use.
Our ISO 9001:2015 accredited laboratory (Cert: INT/EGQ/2509DA/3139) follows validated bioinformatics pipelines and stringent quality control measures to ensure 99.9% analytic sensitivity and specificity for all clinically reported variants.
Targeted NGS vs. Whole Exome Sequencing – Comparative Advantages
| Feature | Our Test (DNA Labs UAE) | Whole Exome Sequencing |
|---|---|---|
| Precision | Targeted NGS, 99.9% analytic sensitivity for DKC1 | Broad capture; may miss deep intronic or low-coverage regions |
| Method | Illumina-based NGS with validated DKC1-specific bioinformatics | Whole exome capture and sequencing |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Cost | 2,800 AED | 5,000–8,000 AED (estimate) |
| Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Varies by laboratory |
Physician Insight & Safety Protocols
Consultant Medical Genetics, Lina Osama Zaki Quteineh (DHA Registration ID: 9294403), states:
"I understand how challenging it can be to pursue a genetic diagnosis for a rare condition like Hoyeraal-Hreidarsson syndrome. This targeted NGS test provides a definitive molecular answer that can directly guide clinical management and family counselling. However, a negative result does not completely exclude the syndrome—careful correlation with clinical findings and a detailed family pedigree remains essential. I strongly recommend pre-test genetic counselling to discuss all possible outcomes and implications."
Important Advisory – Medication and Clinical Precaution
Do not alter or discontinue any prescribed medications without first consulting your treating physician. Inform the phlebotomist of all current medications, especially anticoagulants or antiplatelet therapies, prior to sample collection.
Safety Exclusion & Red Flags
- Exclusion: Inability to provide informed consent; minors require legal guardian consent in accordance with UAE Federal Law No. 2 of 2019 and Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Known haemostatic disorder or severe coagulopathy that renders venipuncture unsafe.
- ER Red Flag: Persistent bleeding, sudden swelling, or signs of infection at the draw site—seek urgent medical evaluation.
- ER Red Flag: Fainting, dizziness, or severe pain after sample collection requires immediate medical attention.
Patient FAQ & Clinical Guidance
1. What is the DKC1 gene test and what condition does it diagnose?
Snippet: The DKC1 gene test uses targeted NGS to identify disease-causing mutations in the DKC1 gene, providing a definitive molecular diagnosis for Hoyeraal-Hreidarsson syndrome—a rare multisystem disorder affecting bone marrow, skin, and neurological development.
This test is performed on a blood sample, extracted DNA, or an FTA card spot in our ISO-accredited facility. Pre-test genetic counselling is strongly advised to construct a detailed family pedigree and explain all potential outcomes. A negative result does not entirely rule out the syndrome and must be correlated with clinical evaluation by a specialist.
2. How long will it take to receive my results?
Snippet: The turnaround time is 3 to 4 weeks from the date of sample receipt, ensuring thorough sequencing, bioinformatics analysis, and expert clinical interpretation by certified molecular geneticists.
We prioritise accuracy over speed—each sample undergoes rigorous NGS analysis. You will be notified by WhatsApp or SMS as soon as the accredited report is ready for secure download or courier delivery.
3. Is home blood collection available across the UAE?
Snippet: Yes, we offer VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection from 8 AM to 11 PM daily in all seven Emirates, including Abu Dhabi, Dubai, Sharjah, Ajman, Umm Al Quwain, Ras Al Khaimah, and Fujairah.
Our DHA-licensed phlebotomists follow strict infection control protocols. Book your appointment via WhatsApp at +971 54 548 8731, and we will come to your home, office, or hotel. For FTA card samples, ensure the card is completely air-dried before transport.
UAE Regulatory & Data Privacy Adherence
This clinical service fully complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring all genetic data is processed, stored, and transmitted with strict confidentiality and consent-based protocols. Additionally, it adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, governing the secure handling of electronic health records and telemedicine interactions. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory is licensed by the Dubai Health Authority (DHA Facility License No. 1143) and operates under the corporate brand DNA Labs UAE.
Clinical & Logistical Metadata
| Test Name | DKC1 Gene Sequencing for Hoyeraal-Hreidarsson Syndrome |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Targeted Next Generation Sequencing (NGS) on Illumina Platform |
| ICD-10-CM Code | Q87.8 – Other specified congenital malformation syndromes |
| LOINC Code | 82939-0 – Genetic analysis of specified gene |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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