Test Price
2,800 AED✅ Home Collection Available
NHP2 Gene Dyskeratosis Congenita, Autosomal Recessive Type 2 Genetic Test in UAE | 2800 AED | DHA Licensed Molecular Diagnostic
Executive Summary & Core Metrics
- Diagnostic Precision: >99.9% clinical sensitivity achieved through ISO 9001:2015‑certified processing (certificate INT/EGQ/2509DA/3139) with full coding‑region coverage.
- Concierge Logistics: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily 8 AM to 11 PM; FTA card and extracted DNA also accepted.
- Post‑Test Counselling: A dedicated consultant geneticist provides a telephone review of your results, correlating them with family history and clinical findings.
- Insurance Facilitation: Direct coverage verification via WhatsApp (+971 54 548 8731) and assistance with pre‑authorisation submissions.
Test Overview & Methodology
The NHP2 Gene Dyskeratosis Congenita (Autosomal Recessive Type 2) Genetic Test is a definitive molecular diagnostic tool that sequences the entire NHP2 gene using next‑generation sequencing. This test confirms the presence of pathogenic variants responsible for the multisystem syndrome—characterised by mucocutaneous abnormalities, bone marrow failure, and elevated cancer risk—and guides accurate genetic counselling in the UAE.
| Feature | Our Test – NGS NHP2 (Next‑Generation Sequencing) | Closest Alternative – Sanger Sequencing |
|---|---|---|
| Diagnostic Precision | >99.9% sensitivity; complete coding region coverage including deep intronic regions | ~95% sensitivity; limited to selected exons only |
| Methodology | NGS with bioinformatic variant interpretation per ACMG guidelines | Conventional Sanger sequencing; slower and higher cost for full gene |
| Turnaround Time | 3–4 weeks | 6–8 weeks for full gene coverage |
| Sample Acceptability | Whole Blood, Extracted DNA, or One‑Drop Blood on FTA Card | Primarily blood or extracted DNA; FTA card often not validated |
| Price (AED) | 2,800 | ~3,500 – 4,000 |
A comprehensive pre‑test clinical history and genetic counselling session is mandatory. During this session a three‑generation pedigree chart is documented, capturing all family members with dyskeratosis congenita or suggestive mucocutaneous/haematological signs. The session ensures appropriate test selection, accurate risk assessment, and full compliance with UAE genetic counselling standards.
Relevant Specialist Referral Pathways
- Dermatologist – evaluation of skin and nail abnormalities typical of dyskeratosis congenita
- Oncologist / Haematologist – surveillance and management of bone marrow failure and malignancy risk
- Clinical Geneticist / Genetic Counsellor – variant interpretation and family planning guidance
Physician Insight & Safety Protocols
“As a DHA‑licensed consultant in medical genetics, I emphasise that the NHP2 gene test is a powerful component of a broader diagnostic workup. A positive result confirms a hereditary predisposition, but it must always be interpreted alongside physical examination findings, family pedigree data, and complementary laboratory evaluations. Patients should never discontinue or alter any prescribed therapy solely on the basis of this genetic result without direct discussion with their treating physician. Our role is to inform and empower clinical decision‑making, not to replace it.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication & Treatment Continuity
Do not discontinue prescribed medication or withdraw from any ongoing therapy based solely on this test result without consulting your treating doctor. Genetic findings are intended to guide, not override, clinical judgment.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Blood sample collection will be deferred if the patient has received a whole blood transfusion or bone marrow transplant in the preceding 28 days. For minors (<18 years), written consent from a legal guardian is required in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags – Seek Immediate Medical Attention If Present: New‑onset spontaneous bruising/bleeding, rapid weight loss, unexplained fever >38.5°C, signs of pancytopenia such as severe fatigue or recurrent infections. These may indicate underlying haematopoietic failure and require urgent clinical assessment independent of genetic testing.
- Data Privacy Assurance: All genetic data is protected under 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. Results are released exclusively to the ordering physician and the patient.
Patient FAQ & Clinical Guidance
1. What is the NHP2 gene test and why is it specifically requested?
This next‑generation sequencing test detects mutations in the NHP2 gene responsible for autosomal recessive dyskeratosis congenita type 2—a rare inherited syndrome that predisposes to bone marrow failure and cancer. A physician orders it to confirm a clinical suspicion, differentiate it from phenocopies, and enable accurate familial risk stratification.
2. How is the sample collected, and when will I receive the results?
A certified phlebotomist performs a painless home collection of blood (or an FTA card) between 8 AM and 11 PM, and your complete NGS report is delivered securely within 3 to 4 weeks. This streamlined process eliminates the need for hospital visits and maintains sample integrity through ISO‑certified cold‑chain transport.
3. Does health insurance in the UAE cover this genetic test?
Many UAE insurance plans cover molecular genetic testing when pre‑authorised by a specialist. Our dedicated support team conducts direct billing verification through WhatsApp (+971 54 548 8731) and assists with all necessary medical justifications and prior approvals.
4. What preparation is needed before providing a sample?
No special dietary or medication preparation is required. However, you must attend a pre‑test genetic counselling session where a three‑generation family pedigree will be documented. If you have received a blood transfusion or bone marrow transplant within the past 28 days, the blood draw will be deferred to avoid false results.
5. Can this test predict cancer risk or guide treatment?
Yes. A pathogenic NHP2 variant confirms a markedly elevated lifetime risk of myelodysplasia, acute myeloid leukaemia, and solid tumours. The result enables tailored surveillance protocols (e.g., annual bone marrow biopsy, imaging) and informs pre‑emptive planning for haematopoietic stem cell transplantation where indicated.
UAE Regulatory & Data Privacy Adherence
All genetic testing at DNA Labs UAE is conducted 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. Patient genomic data is encrypted, access‑controlled, and never shared with third parties without explicit written consent. Results are disclosed exclusively to the ordering physician and the patient. Laboratory operations are further governed by the DHA Healthcare Facility Licensing framework and ISO 9001:2015 quality management standards.
Clinical & Logistical Metadata
| Test Name | NHP2 Gene Dyskeratosis Congenita, Autosomal Recessive Type 2 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA (1 µg), or FTA Card. VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next‑Generation Sequencing (NGS) with bioinformatic variant interpretation per ACMG guidelines |
| ICD-10-CM Code | D61.0 (Constitutional aplastic anaemia – dyskeratosis congenita) |
| LOINC Code | 21636-6 (Gene mutations identified in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address Invariants | DHA Facility License Number: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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