Test Price
2,800 AEDโ Home Collection Available
VPS45 Gene Severe Congenital Neutropenia Type 5 Genetic Test in Dubai โ DHA Licensed Molecular Analysis
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity โ ISO 15189 Accredited Molecular Genetics Laboratory
- Clinical Indication: Autosomal recessive severe congenital neutropenia type 5 (SCN5) caused by biallelic VPS45 mutations.
- Methodology: Next-Generation Sequencing (NGS) with full gene coverage and bioinformatics annotation.
- Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM โ 11 PM).
- Insurance Verification: Direct billing check via WhatsApp +971 54 548 8731.
- Price: 2,800 AED inclusive of genetic counseling report.
Test Overview & Methodology
This single-gene analysis interrogates the entire coding region and splice sites of the VPS45 gene using clinical-grade NGS. Variant interpretation follows ACMG/AMP guidelines. The test is indicated for patients with unexplained recurrent infections, persistent neutropenia, and a family history suggestive of autosomal recessive inheritance.
| Feature | VPS45 NGS Test (DNA Labs UAE) | Single-Gene Sanger Sequencing |
|---|---|---|
| Coverage | All exons + 20 bp flanking introns; detects deep intronic candidates via RNA analysis if indicated | Limited to predefined exons; misses novel intronic variants |
| Sensitivity | 99.9% for SNVs and indels < 20 bp | ~99.0% for targeted exons only |
| Turnaround | 3โ4 weeks | 4โ6 weeks |
| Clinical Utility | Identifies all variant types including splice-altering and deep intronic mutations; enables carrier testing | Misses non-canonical splice variants; limited carrier detection |
Physician Insight & Safety Protocols
โThe VPS45 genetic test provides a definitive molecular diagnosis for severe congenital neutropenia type 5, a life-threatening condition if unrecognized. Interpretation must be paired with a complete blood count, bone marrow evaluation, and a three-generation pedigree. I recommend that all patients receive pre- and post-test genetic counseling to understand recurrence risks and therapeutic options such as G-CSF therapy or hematopoietic stem cell transplantation.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory & Pre-Test Requirements
- Mandatory genetic counseling session prior to sample collection to construct a pedigree and discuss test implications.
- Disclose all immunosuppressive medications, recent G-CSF use, and history of stem cell transplantation.
- If the patient is a bone marrow transplant recipient, testing must be performed on donor-derived DNA or buccal cells as directed by the treating hematologist.
Exclusion Criteria & Emergency Red Flags
- Recent blood transfusion (within 14 days) may cause false negative results due to donor DNA admixture.
- Active severe infection or febrile neutropenia requiring hospital admission โ postpone genetic sampling until clinical stability.
- Known allogeneic stem cell transplant recipient โ consult the transplant physician before ordering.
- Seek immediate emergency care if fever >38.5ยฐC, severe oropharyngeal ulcers, or rapidly dropping neutrophil counts occur. This genetic test must never delay acute medical intervention.
Patient FAQ & Clinical Guidance
1. What does the VPS45 gene test diagnose?
This NGS test detects pathogenic variants in the VPS45 gene responsible for autosomal recessive severe congenital neutropenia type 5 (SCN5). SCN5 is characterized by very low neutrophil counts, recurrent bacterial infections, and a high risk of myelodysplasia if untreated.
2. How is the sample collected for this test?
A standard peripheral whole blood sample (3โ5 mL in EDTA) is drawn by our VIP mobile phlebotomist at your home or office. The sample is immediately placed in a temperature-controlled cold-chain transport box and delivered to our ISO-accredited laboratory in Dubai Healthcare City.
3. What is the turnaround time and total cost?
Results are reported within 21โ28 calendar days. The all-inclusive fee is 2,800 AED (no hidden charges). Insurance direct billing verification is available via WhatsApp at +971 54 548 8731.
4. Who should consider this genetic test?
Individuals with persistent neutropenia of unknown cause, a family history of severe congenital neutropenia, or clinical features such as recurrent sinopulmonary infections, skin abscesses, or early-onset periodontitis. Carrier testing for at-risk family members is also available.
5. Will insurance cover this test?
Coverage depends on your policy and medical necessity. Our team assists with pre-authorization and direct billing. Contact us via WhatsApp to check your eligibility before booking.
UAE Regulatory & Data Privacy Adherence
This test operates under the framework of 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. All genetic data are encrypted, access-controlled, and processed solely for diagnostic purposes. DNA Labs UAE holds DHA Facility License 1143 and maintains ISO 15189 accreditation for molecular genetic testing. Clinical consent and reporting follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | VPS45 Gene Severe Congenital Neutropenia Type 5 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 weeks (21โ28 calendar days) |
| Sample Type / Matrix | Peripheral whole blood (EDTA), 3โ5 mL; alternative: buccal swab or extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina platform; bioinformatics pipeline with ACMG variant classification |
| ICD-10-CM Code | D70.0 (Congenital agranulocytosis) |
| LOINC Code | 81369-6 (VPS45 gene targeted mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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