Test Price
2,800 AED✅ Home Collection Available
VPS45 Gene Severe Congenital Neutropenia Type 5 (Autosomal Recessive) Genetic Test in UAE
Executive Summary & Core Metrics
UAE Clinical Trust Guarantee
This definitive genomic test screens the entire VPS45 gene via Next-Generation Sequencing (NGS), delivering >99.9% analytical sensitivity for autosomal recessive severe congenital neutropenia type 5. Performed in our ISO 9001:2015 accredited facility, the assay provides actionable molecular insights for dermatologic, immunologic and pediatric management. All results are backed by telephonic post-test clinical guidance and direct insurance billing verification via WhatsApp at +971 54 548 8731.
Key metrics: Test price 2,800 AED (inclusive of home collection and genetic counseling), turnaround time 3–4 weeks, sample accepted as whole blood (EDTA), extracted DNA, or FTA card. DHA-licensed facility (License 1143) in Dubai Healthcare City.
Test Overview & Methodology
The VPS45 NGS test identifies pathogenic variants in the VPS45 gene that cause severe congenital neutropenia type 5 (OMIM #615285), an autosomal recessive immunodeficiency marked by recurrent bacterial infections, oral ulcerations and early-onset neutropenia. This high-resolution test empowers dermatologists, pediatricians and oncologists to confirm diagnosis, guide antibiotic prophylaxis and consider granulocyte colony-stimulating factor therapy.
| Feature | Our VPS45 NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Gene Coverage | Full gene (exons, flanking introns, deep intronic regulatory regions) | Selected exons only; may miss deep intronic or copy-number variants |
| Analytical Sensitivity | >99.9% for single nucleotide variants & small indels; CNV detection included | ~99% for targeted region; limited CNV detection |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks (often longer for full gene) |
| Sample & Price | Blood / DNA / FTA card – 2,800 AED | Blood only – 2,500–3,200 AED (variable coverage) |
Physician Insight & Safety Protocols
“A positive VPS45 result carries profound diagnostic and prognostic significance, but it must be correlated with serial neutrophil counts, bone marrow biopsy and clinical history. I cannot stress enough that this test guides long-term management—do not alter any prescribed antibiotic or G-CSF therapy without your specialist’s direct approval. Our team at DNA Labs UAE provides supportive tele-counseling to help families navigate this complex autosomal recessive condition.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Medication Safety & Treatment Continuity
Important Medication Alert
Do not discontinue prescribed medication, including granulocyte colony-stimulating factor (G-CSF) or prophylactic antibiotics, without consulting your supervising physician.
- Emergency Red Flags: Seek immediate emergency care if the patient develops fever >38.3°C, severe mouth ulcers with difficulty swallowing, signs of sepsis (confusion, rapid breathing, cold extremities), or absolute neutrophil count <0.2×10⁹/L with hypotension.
Exclusion Criteria & Sample Handling
Sample Exclusion & Pre-Test Requirements
- Exclusion Criteria: Sample clotted, hemolyzed, insufficient quantity, or collected within 90 days after allogeneic bone marrow transplant. Plasma-depleted whole blood or frozen DNA must be handled per pre-test information.
- Pre-Test Preparation: A detailed clinical history focusing on recurrent infections, oral/genital ulcers, neutrophil counts, and family pedigree is mandatory. A genetic counseling session to draw the pedigree chart of family members affected by VPS45 gene variants is included. Avoid discontinuing any current treatments; always consult the ordering physician. Samples collected on FTA cards must be dried completely before shipment.
Patient FAQ & Clinical Guidance
1. What exactly does the VPS45 gene test detect?
The VPS45 gene test identifies disease-causing variants (mutations) responsible for severe congenital neutropenia type 5, an autosomal recessive immunodeficiency disorder. It analyzes all coding regions and adjacent splice sites using NGS, enabling early diagnosis even before severe infections appear, and distinguishes this condition from other neutropenic disorders.
2. How is the test performed and what sample is needed?
The test requires a simple blood draw (2-5 mL in EDTA tube), extracted DNA, or a drop of blood on an FTA card. Our ISO-certified cold-chain home collection service (8 AM–11 PM) ensures sample stability; NGS is then performed in our DHA-licensed facility, with a turnaround time of 3 to 4 weeks.
3. What is the cost and can insurance cover it?
The total price is 2,800 AED, inclusive of home collection, genetic counseling session and post-test telephonic interpretation. Direct insurance billing verification is available via WhatsApp at +971 54 548 8731; many UAE policies now cover diagnostic genetic testing for suspected congenital neutropenia under the applicable UAE health insurance frameworks.
4. Who should consider this test?
This test is intended for individuals with clinical suspicion of severe congenital neutropenia type 5, including those with recurrent bacterial infections, oral ulcers, early-onset neutropenia, or a family history of autosomal recessive neutropenia. It is also recommended for genetic counseling of at-risk family members.
5. How are results delivered and interpreted?
Results are provided as a detailed molecular report within 3–4 weeks, including variant classification (pathogenic, likely pathogenic, VUS, etc.) and clinical recommendations. A telephonic consultation with our genetics team is included to explain implications and next steps.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
All genetic data processed through this test complies 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 consent and clinical safety are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory is DHA-licensed (License 1143) and adheres to the highest standards of data security and confidentiality.
Results are transmitted via encrypted channels, and genetic information is never shared with third parties without explicit patient authorization in compliance with UAE health data regulations.
Clinical & Logistical Metadata
| Test Name | VPS45 Gene Severe Congenital Neutropenia Type 5 (Autosomal Recessive) Genetic Test |
| Price (AED) | 2,800 AED (includes home collection, genetic counseling, and post-test telephonic interpretation) |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, 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) – full gene sequencing including exons, flanking introns, and deep intronic regions with CNV detection |
| ICD-10-CM Code | D70.0 (Hereditary agranulocytosis / Congenital neutropenia) |
| LOINC Code | 21637-6 (VPS45 gene mutation analysis) |
| DHA Facility License & Address | DHA Facility License Number: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab Branding: DNA Labs UAE |
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