Test Price
2,800 AED✅ Home Collection Available
USB1 Gene Poikiloderma with Neutropenia (Clericuzio Type) Genetic Test in UAE | AED 2,800
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Sequencing. Certification: INT/EGQ/2509DA/3139.
- Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across all Emirates. An additional AED 150 home visit fee applies for residential collection.
- Clinical Guidance: Complimentary post-test telephonic interpretation with a board-certified Consultant Medical Geneticist.
- Insurance Support: Direct billing verification facilitated via WhatsApp at +971 54 548 8731. Pre-authorization obtained same day for approved plans.
- Price Lock Guarantee: AED 2,800 inclusive of all laboratory, reporting, and courier charges. No hidden fees.
Test Overview & Methodology
The USB1 Gene Poikiloderma with Neutropenia Genetic Test is a definitive targeted molecular assay that sequences the entire coding region and splice junctions of the USB1 gene using next-generation sequencing (NGS) on the Illumina NovaSeq platform. This test provides a conclusive molecular diagnosis for Clericuzio-type poikiloderma with neutropenia, a rare autosomal recessive disorder characterized by early-onset poikiloderma, chronic neutropenia, and an elevated risk for myelodysplastic syndrome and hematopoietic malignancies. All pathogenic and likely pathogenic variants are confirmed by bi-directional Sanger sequencing prior to final release.
| Parameter | DNA Labs UAE – Targeted NGS | Closest Alternative – Whole Exome Sequencing |
|---|---|---|
| Precision | >99.9% analytical sensitivity across all USB1 exons, flanking intronic regions, and splice sites | ~95% sensitivity; may miss deep-intronic variants, regulatory regions, or low-coverage exon boundaries |
| Methodology | Targeted NGS (Illumina NovaSeq) with confirmatory Sanger sequencing for every variant | Whole-exome capture with variable read depth across USB1; Sanger confirmation performed only when indicated |
| Turnaround | 3–4 weeks from sample receipt to final report | 4–6 weeks; secondary analysis often extends timeline |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Geneticist specialising in inherited bone marrow failure syndromes, I emphasise that the USB1 sequencing test delivers a molecular anchor for a diagnosis that is often suspected but historically challenging to confirm. A positive result—biallelic pathogenic variants—confirms Clericuzio-type poikiloderma with neutropenia and triggers crucial surveillance for myelodysplastic syndrome and acute myeloid leukaemia. However, a negative result does not exclude the condition if the clinical and haematological phenotype is strong; functional studies and deep intronic analysis may be warranted. We provide compassionate, face-to-face counselling to help families understand every aspect of the report and its implications for long-term care.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory – Medication Safety
Never discontinue, reduce, or alter prescribed granulocyte colony-stimulating factor (G-CSF) therapy, prophylactic antibiotics, or any haematological supportive care without direct consultation with your supervising haematologist or clinical geneticist. Abrupt cessation of G-CSF can precipitate life-threatening neutropenic sepsis. This test is a diagnostic adjunct and does not replace or override active treatment protocols.
Exclusion Criteria and Emergency Red Flags
- Minor Testing Restriction: This genetic test cannot be performed on asymptomatic minors without explicit court-approved guardian consent, in compliance with Federal Law No. 2 of 2019 and the UAE Child Rights Law. Contact our compliance team for the necessary consent forms.
- Non-Diagnostic Use Exclusion: This test is validated strictly for clinical diagnosis of Clericuzio-type poikiloderma with neutropenia. It must not be used for paternity, forensic identity, ancestry, or carrier screening purposes. A separate chain-of-custody panel is required for legal applications.
- Emergency Red Flag – Neutropenic Sepsis: If the patient develops fever exceeding 38.5°C, rigors, oral ulceration, pharyngitis, or perianal pain during the waiting period, seek immediate haematology or emergency department evaluation. Neutropenic sepsis progresses rapidly and requires urgent parenteral antibiotics.
- Emergency Red Flag – Bleeding Diathesis: New-onset bruising, petechiae, epistaxis, or gum bleeding warrants an urgent complete blood count and clinical assessment for myelodysplastic syndrome progression.
Patient FAQ & Clinical Guidance
1. What is the USB1 gene and what does this test detect?
The USB1 gene provides instructions for a protein involved in RNA processing and telomere maintenance. Biallelic pathogenic variants in USB1 cause Clericuzio-type poikiloderma with neutropenia, a rare autosomal recessive disorder. This NGS test scans all coding exons and splice junctions for single-nucleotide variants, insertions, deletions, and small copy-number changes with 99.9% sensitivity. A definitive molecular diagnosis helps direct surveillance for myelodysplastic syndrome, guides G-CSF therapy decisions, and informs recurrence risk counselling for families.
2. What sample type is required and how is home collection arranged?
The test requires a single 3 mL peripheral whole blood sample collected in an EDTA (purple-top) tube. For patients unable to attend our facility, our DHA-licensed VIP Mobile Phlebotomy team provides safe home collection across all Emirates, including Dubai, Abu Dhabi, Sharjah, Ajman, Ras Al Khaimah, Fujairah, and Umm Al Quwain. Collection slots operate daily from 8 AM to 11 PM. All samples are transported via ISO-certified temperature-controlled cold-chain logistics to preserve nucleic acid integrity.
3. Will my health insurance cover the cost of this genetic test?
Most UAE health insurance plans, including DHA-mandated and premium private policies, provide coverage for medically indicated single-gene sequencing tests when pre-authorised with a valid referral from a consultant haematologist, dermatologist, or clinical geneticist. To confirm your specific benefits, send a clear photo of your Emirates ID and insurance card via WhatsApp to +971 54 548 8731. Our insurance team secures prior approval on the same business day wherever possible, ensuring a smooth out-of-pocket experience.
4. How long does it take to receive my results and how are they delivered?
The full analytical and interpretation workflow completes within 3–4 weeks from sample receipt at the DNA Labs UAE central facility in Dubai Healthcare City. Your final report is delivered via secure encrypted email and is also uploaded to your personal online patient portal. Each report includes variant classifications, a clinical interpretation, and a summary of recommended follow-up actions. A telephonic consultation with our Consultant Medical Geneticist is included at no additional charge.
5. Can this test be performed on stored or archival tissue specimens?
Yes, if a fresh blood draw is not feasible, the laboratory can accept formalin-fixed paraffin-embedded (FFPE) tissue blocks or unstained biopsy slides from prior surgical pathology archives. This is classified as an archival tissue specimen retrieval and requires a secure medical courier transfer rather than mobile phlebotomy. Please contact our genetics department for specific shipping instructions and supplementary consent forms before sending any archival material.
UAE Regulatory & Data Privacy Adherence
Your genetic data is processed under the strictest legal safeguards in the United Arab Emirates. DNA Labs UAE complies fully with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, storage, and processing of personal and genetic data with explicit patient consent, data minimisation, and the right to erasure.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – mandating secure electronic health records, encrypted transmission, and audited access logs for all diagnostic data.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – ensuring that all clinical testing, patient consent processes, and post-test counselling adhere to the recognised standard of care and professional accountability.
- Dubai Healthcare City (DHCC) Regulatory Framework – our facility operates under DHA Facility License Number 1143 and is subject to ongoing inspection and quality assurance by the Dubai Health Authority.
All genetic reports are stored on encrypted servers within the UAE. No data is shared with third parties without explicit written authorisation from the patient or legal guardian.
Clinical & Logistical Metadata
| Test Name | USB1 Gene Poikiloderma with Neutropenia (Clericuzio Type) Genetic Test |
| Price (AED) | AED 2,800 (inclusive of laboratory analysis, confirmatory Sanger sequencing, clinical interpretation, and courier delivery. An additional AED 150 applies for VIP home phlebotomy.) |
| Turnaround Time | 3–4 weeks from sample receipt in the laboratory |
| Sample Type / Matrix | 3 mL peripheral whole blood in EDTA (purple-top) tube; alternative FFPE tissue block or unstained slide accepted for archival cases |
| Methodology Used | Targeted NGS (Illumina NovaSeq) with Sanger confirmation of all reportable variants; bioinformatics pipeline aligned to GRCh38/hg38 |
| ICD-10-CM Code | Q82.8 (Other specified congenital malformations of skin – Poikiloderma of Clericuzio type) |
| LOINC Code | 81272-4 (USB1 gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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