Test Price
2,800 AED✅ Home Collection Available
ACP5 Gene Spondyloenchondrodysplasia with Immune Dysregulation – Genetic Test in UAE
Executive Summary & Core Metrics
Executive Summary
This definitive next-generation sequencing (NGS) test analyzes the entire coding region of the ACP5 gene to identify pathogenic variants linked to Spondyloenchondrodysplasia with Immune Dysregulation (SPENCDI). It offers >99.9% diagnostic sensitivity, full gene coverage including CNV detection, and is priced at 2800 AED inclusive of a free genetic counselling session. Turnaround time is 3 to 4 weeks. VIP mobile phlebotomy and temperature-controlled cold-chain home collection are available daily from 8 AM to 11 PM across all Emirates. Results are interpreted and reported by a Consultant Medical Geneticist. For insurance pre-verification, contact +971 54 548 8731.
Test Overview & Methodology
The ACP5 Gene Spondyloenchondrodysplasia with Immune Dysregulation test employs high-throughput NGS technology to sequence all exons and flanking intronic regions of the ACP5 gene. This enables detection of single nucleotide variants, small insertions/deletions, and copy number variations. Clinical correlation with skeletal imaging, immunological profile, and dermatologic findings is essential for accurate diagnosis. The test is intended for individuals with clinical suspicion or a confirmed family history of ACP5-related disease.
| Feature | Our ACP5 NGS Test | Traditional Sanger Sequencing |
|---|---|---|
| Precision / Sensitivity | >99.9% diagnostic sensitivity, full gene coverage | ~95% sensitivity, exon-by-exon only |
| Methodology | Next Generation Sequencing (NGS) with CNV detection | Conventional Sanger sequencing |
| Turnaround Time | 3 to 4 Weeks | 5 to 6 Weeks |
| Sample & Logistics | 2 mL Blood – Free VIP Home Collection with cold chain | Requires hospital/lab visit |
Physician Insight & Safety Protocols
Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA: 9294403): “I understand that pursuing a genetic diagnosis can be an emotional journey for families. This test provides vital molecular confirmation, but it must always be correlated with detailed clinical, radiological, and immunological evaluations. We are committed to guiding you through each step with compassion and deep clinical expertise.”
Medication Warning & Advisory
⚠️ Medication Warning:
Do not discontinue or alter any prescribed medication (especially immunosuppressants or corticosteroids) without direct consultation with your treating physician. This test assesses genetic risk only and does not replace acute clinical management.
Patient Safety & Exclusion Criteria
- Not a screening test: Only for patients with clinical suspicion (skeletal dysplasia, autoimmune cytopenias, skin lesions) or a confirmed family history of ACP5-related disease.
- Acute Illness: If you have a fever or active severe infection, the blood draw may be deferred until recovery to ensure sample quality.
- Paediatric Consent: Minors require parental/legal guardian consent as per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability. Genetic counselling is mandatory beforehand.
- Emergency Red Flags: Seek immediate medical attention if you experience excessive bleeding, fainting, or signs of infection (redness, swelling, pus) at the venipuncture site after collection. Call 998 for ambulance services.
- Insurance Pre-verification: Certain policies may require prior approval. Use WhatsApp +971 54 548 8731 to confirm coverage before booking.
Patient FAQ & Clinical Guidance
1. What exactly does this ACP5 gene test detect?
This test detects pathogenic variants in the ACP5 gene that cause spondyloenchondrodysplasia with immune dysregulation, a rare disorder with skeletal defects and autoimmune features. The analysis includes full gene sequencing and CNV detection.
2. How long will I wait for the genetic report?
Results are typically ready in 3 to 4 weeks because comprehensive NGS analysis and expert variant interpretation require meticulous attention to detail. A free genetic counselling session is included to explain the findings.
3. Can the blood sample be collected at my home in the UAE?
Yes, we offer a premium hospital-grade home collection service with ISO-certified cold-chain transport, available across all Emirates from 8 AM to 11 PM daily. Simply book via WhatsApp.
UAE Regulatory & Data Privacy Adherence
Data Protection Compliance: All genetic data is handled in strict accordance 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. Your test results are securely encrypted and accessible only to authorized healthcare professionals involved in your care. DNA Labs UAE is fully licensed by the Dubai Health Authority (DHA License #1143) and adheres to ISO 9001:2015 quality management standards (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | ACP5 Gene Spondyloenchondrodysplasia with Immune Dysregulation – Genetic Test (DNA Labs UAE) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | 2 mL Peripheral Whole Blood (EDTA tube) |
| Methodology Used | Next Generation Sequencing (NGS) with CNV detection |
| ICD-10-CM Code | M89.88 |
| LOINC Code | 92734-4 |
| DHA Facility License & Laboratory Address | DHA License #1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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