Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3โ4 Weeks
NOP10 Gene Dyskeratosis Congenita (Autosomal Recessive Type 1) NGS Test in UAE | 2800 AED
Executive Summary & Core Metrics
Test Overview & Methodology
This advanced NGS panel comprehensively analyses the NOP10 gene for pathogenic variants linked to autosomal recessive dyskeratosis congenita type 1โa rare inherited bone marrow failure and cancer predisposition syndrome. The test enables early detection, family screening, and personalised surveillance for skin, oral, and haematological malignancies.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Full gene coverage, detects deep intronic & copy-number variants | Limited to known exonic hotspots; may miss large rearrangements |
| Methodology | Next-Generation Sequencing (Illumina platform) with bioinformatic filtering | Sanger sequencing of specific amplicons |
| Speed (TAT) | 3โ4 Weeks (includes confirmation & reporting) | 4โ6 Weeks (often requires sequential primer walking) |
Physician Insight & Safety Protocols
Clinical Perspective โ Dr. Lina Osama Zaki Quteineh (DHA Registration ID: 9294403)
"As a Consultant Medical Genetics, I emphasise that genetic testing for dyskeratosis congenita must never be interpreted in isolation. A positive NOP10 variant demands immediate haematological assessment for bone marrow failure and multidisciplinary cancer surveillance. Even a negative result requires clinical correlation if mucocutaneous signs persist."
Medication Advisory
โ ๏ธ Medication Advisory
Do not discontinue any prescribed medication (e.g., androgens, G-CSF) without consulting your specialist. Test results are not a substitute for ongoing clinical care.
Exclusion Criteria & Safety Red Flags
- Patient aged <18 years without legal guardian consent (per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Haemodynamic instability, active severe infection, or acute bleeding diathesis.
- Inability to provide adequate sample volume; unconfirmed identity.
- Seek Emergency Care If: Sudden pallor, petechiae, unprovoked bleeding, severe oral leukoplakia with dysphagia, or rapid skin lesion change.
Pre-test requirements: Clinical history submission and a genetic counselling session to construct a pedigree chart. Sample accepted: Whole blood, extracted DNA, or one drop of blood on an FTA card. Special exclusion for supplements/anticoagulants will be communicated during scheduling.
Patient FAQ & Clinical Guidance
1. What does the NOP10 gene test detect, and why is it recommended?
This test identifies pathogenic DNA variants in the NOP10 gene causing autosomal recessive dyskeratosis congenita type 1, a syndrome associated with bone marrow failure, skin abnormalities, and cancer risk. Early molecular diagnosis guides lifesaving surveillance and family planning.
2. How is the sample collected, and when can I expect results?
A certified phlebotomist collects a small blood sample or a dried blood spot on an FTA card during an 8 AMโ11 PM home visit, using a validated cold-chain protocol. The report is issued within 3โ4 weeks after laboratory receipt.
3. Is genetic counselling included, and how should I prepare?
Yes, a mandatory DHA-compliant genetic counselling session (pedigree charting and risk assessment) precedes the test; you should gather family medical records and a list of current medications.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This service adheres to UAE 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. Laboratory licensed by Dubai Health Authority (Facility License: 1143). ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Medicolegal Disclaimer: All results are for clinical correlation and must be interpreted by a DHA-licensed physician. Never self-interpret or modify treatment without professional advice.
Clinical & Logistical Metadata
| Test Name | NOP10 Gene Dyskeratosis Congenita (Autosomal Recessive Type 1) NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole blood / Extracted DNA / Dried Blood Spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina platform |
| ICD-10-CM Code | D82.8 |
| LOINC Code | 81321-0 |
| DHA Facility License & Laboratory Address Invariants | Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
Preparation Required
["Submit clinical history", "Attend genetic counselling session", "Gather family medical records", "List current medications"]
Medically Reviewed by Dr. Lina Osama Zaki Quteineh
All content reviewed by qualified professionals for accuracy.
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians