Test Price
2,800 AEDโ Home Collection Available
SQSTM1 Gene Paget Disease of Bone Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary: This definitive SQSTM1 gene analysis delivers 99.9% diagnostic sensitivity via ISO-accredited next-generation sequencing, identifying pathogenic variants linked to Paget disease of bone and associated multisystem disorders. Your care includes VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily from 8โฏAM to 11โฏPM), and post-test telephonic clinical guidance by DHA-licensed genetics experts. Direct insurance billing verification is available instantly via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The SQSTM1 NGS test screens the entire coding region of the SQSTM1 gene using next-generation sequencing (Illumina NovaSeq), detecting mutations responsible for classic and juvenile Paget disease of bone, and contributing to risk stratification in associated dermatological, oncological, and immunological conditions. The test offers unparalleled precision in identifying single nucleotide variants, small insertions/deletions, and copy number alterations with a 3โ4 week turnaround.
| Parameter | Our SQSTM1 NGS Test | Closest Alternative (Sanger/Genotyping) |
|---|---|---|
| Methodology | Full gene NGS (Illumina NovaSeq) | Targeted mutation analysis (PCR/Sanger) |
| Diagnostic Yield | >99.9% sensitivity | 86โ92% for known hotspots only |
| Clinical Report Time | 3โ4 Weeks | 2โ4 Weeks (limited variant coverage) |
Physician Insight & Safety Protocols
โA positive SQSTM1 result indicates a genetic predisposition, not an active disease. It must be interpreted alongside biochemical markers, imaging, and family history. This test empowers you with knowledge, but any treatment decisions โ including bisphosphonates or vitamin D โ require a multidisciplinary team evaluation. Never start or stop medications without consulting your bone specialist or medical geneticist.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Pre-Test Counseling & Clinical Context
This genetic test is intended for adults with early-onset bone deformities, unexplained fractures, or a family history of Paget disease. It is not a screening tool for the general population. Genetic counseling before the test is strongly recommended to discuss implications for family members and the possibility of incidental findings in genes associated with cancer or neurodegeneration.
Exclusion & Emergency Red Flags
Exclusion: This test is not for individuals under 18 without a court-appointed guardianโs consent per UAE legal frameworks. It does not replace emergency radiological evaluation for acute bone pain or fracture.
Immediate Emergency: If you experience sudden severe bone pain, loss of limb function, neurological deficits (hearing loss, paralysis), or signs of osteosarcoma (rapid swelling, pathological fracture), proceed to the nearest emergency room immediately.
Post-Test Medication Warning: Do not discontinue prescribed medications (e.g., calcitonin, bisphosphonates, vitamin D) based solely on genetic results. All adjustments must be supervised by your treating physician.
Patient FAQ & Clinical Guidance
1. What does the SQSTM1 genetic test reveal, and who should consider it?
The SQSTM1 NGS test identifies inherited mutations that significantly raise the risk of developing Paget disease of bone, juvenile Paget disease, and linked skin or neoplastic disorders. It is essential for adults with early-onset bone deformities, unexplained fractures, or a family history of Paget disease. Genetic counseling is advised before testing.
2. How is the sample collected, and why does it take 3โ4 weeks to receive results?
A standard peripheral blood sample is collected via VIP Mobile Phlebotomy at your home (8โฏAMโ11โฏPM) by a DHA-licensed phlebotomist. The sample undergoes rigorous library preparation, high-coverage NGS sequencing, and multi-step bioinformatic analysis that requires 3โ4 weeks to ensure 100% clinical accuracy.
3. Will my insurance cover this test, and is my data protected under UAE law?
Most UAE insurers cover the SQSTM1 test when pre-authorized via our direct billing verification. All genetic data is anonymised and stored in 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, ensuring full confidentiality.
UAE Regulatory & Data Privacy Adherence
This test is performed under the regulatory oversight of the Dubai Health Authority (DHA Facility License No. 1143) and adheres to the following UAE legal frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ ensures genetic data privacy.
- Federal Law No. 2 of 2019 โ governs the use of ICT in health fields for secure data handling.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ governs clinical testing safety and patient consent.
Your genetic information remains strictly confidential and is never shared without your explicit written consent.
Clinical & Logistical Metadata
| Test Name | SQSTM1 Gene Paget Disease of Bone Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral whole blood |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina NovaSeq |
| ICD-10-CM Code | M88.9 |
| LOINC Code | 92878-1 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians