Test Price
2,800 AED✅ Home Collection Available
RTEL1 Gene Dyskeratosis Congenita Autosomal Recessive Type 5 Genetic Test in UAE – DHA Licensed Laboratory
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing (Cert: INT/EGQ/2509DA/3139).
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection across all Emirates. Available daily from 8 AM to 11 PM. Suitable for whole blood (EDTA) or FTA card specimens.
- ✓ Clinical Guidance: Complimentary Telephonic Post‑Test Clinical Guidance with a licensed genetic counsellor to interpret results.
- ✓ Insurance Direct Billing Verification: WhatsApp +971 54 548 8731 before booking.
Test Overview & Methodology
The RTEL1 Gene Dyskeratosis Congenita Genetic Test detects pathogenic variants in the RTEL1 gene responsible for autosomal recessive dyskeratosis congenita type 5 – a rare multi‑system disorder featuring bone marrow failure, skin abnormalities, and cancer predisposition. This next‑generation sequencing test provides definitive molecular confirmation, empowering early surveillance and tailored management in the UAE under DHA/MOHAP standards.
| Feature | Our Test (RTEL1 NGS) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Precision | Full coding region + splice sites; ≥99.9% analytical sensitivity | Limited to selected exons; may miss deep intronic/regulatory variants |
| Methodology | Illumina‑based Next Generation Sequencing with orthogonal confirmation | Capillary electrophoresis (Sanger) – lower throughput |
| Turnaround Time | 3–4 weeks | 6–8 weeks (batch‑dependent) |
| Clinical Utility | Comprehensive – identifies all mutation types including novel variants | Targeted – only known familial mutation if previously identified |
Physician Insight & Safety Protocols
“This test is a powerful step toward clarity for families affected by dyskeratosis congenita, yet it must be interpreted within the full clinical picture. As a consultant medical geneticist, I emphasize that a negative result does not exclude the diagnosis if clinical suspicion remains high, and any genetic finding must be correlated with haematological, dermatological, and oncological evaluations. Please rely on a multi‑disciplinary team to guide the next steps.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory Notes on Medication and Treatment
⚠️ Medically Important: Do not discontinue any prescribed medication, including androgens or immunosuppressants, without explicit instruction from your supervising specialist. Altering treatment before genetic confirmation can precipitate serious complications.
Exclusion Criteria & Emergency Red Flags
🔴 Exclusion from routine home collection
- Active life‑threatening bleeding, severe neutropenic sepsis, or acute respiratory distress: transfer to emergency services immediately.
- ER Red Flags: New onset fever >38.3 °C with absolute neutrophil count <500/µL, spontaneous bruising or petechiae with platelet count <20,000/µL, or sudden vision loss (retinal haemorrhage risk).
- Minors: Written consent from legal guardian(s) is mandatory under Federal Decree-Law No. 4 of 2016 on Medical Liability; specimen collection for children is performed by a paediatric phlebotomy team in the presence of a parent.
Patient FAQ & Clinical Guidance
1. What does the RTEL1 gene test for dyskeratosis congenita tell me?
Detects RTEL1 mutations causing dyskeratosis congenita type 5, a bone marrow failure and cancer syndrome. The NGS‑based assay scans the entire RTEL1 gene to identify disease‑causing variants, confirming the diagnosis and guiding surveillance for pancytopenia, pulmonary fibrosis, and malignancies. A positive result enables carrier testing in relatives and prenatal options, while a negative result may require further investigation for other DC‑associated genes.
2. How should I prepare for the blood or FTA card collection?
No fasting is required; simply keep the arm warm and hydrated to ease venipuncture. Whole blood samples are drawn into EDTA tubes; FTA cards require only a single drop of blood from a finger‑prick, making it suitable for remote areas. A genetic counselling session (included pre‑test) will document a three‑generation pedigree. If you are on anticoagulants, notify the phlebotomist; medication should never be withheld unless directed by your physician.
3. What happens after I receive my result?
A positive result triggers lifelong specialist follow‑up; a negative result still requires clinical correlation. You will receive a tele‑consultation with a clinical geneticist who explains the variant and its implications. Based on the outcome, referrals are initiated to haematology, dermatology, and oncology teams in DHA‑licensed centres. All personal genetic data is protected under UAE PDPL, stored encrypted, and never shared without written consent.
UAE Regulatory & Data Privacy Adherence
- Data Protection: All genetic test results and personal data are processed in strict 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.
- Medical Liability: Clinical consent and safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient-centered care and legal accountability.
- Accreditation: The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and operates under DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | RTEL1 Gene Dyskeratosis Congenita Autosomal Recessive Type 5 Genetic Test (NGS) |
| Price (AED) | 2800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA) or FTA card dried blood spot – home collection via VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Transport |
| Methodology Used | Next Generation Sequencing (Illumina) with orthogonal confirmation for all coding regions and splice sites |
| ICD-10-CM Code | D61.0 (Constitutional aplastic anemia – Dyskeratosis congenita) |
| LOINC Code | 81315-2 (Dyskeratosis congenita mutation detection in Blood or Tissue by Molecular genetics) |
| DHA Facility License & Address | DHA Facility License Number: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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