Test Price
2,800 AED✅ Home Collection Available
SOST Gene Van Buchem Disease Genetic Test in UAE | NGS Sequencing | 2800 AED
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS processing with MLPA backup for copy number variant detection.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Interpretation by DHA-licensed Consultant Medical Genetics specialist.
- ✓ Insurance Support: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This comprehensive genetic test delivers full-gene variant detection across the SOST locus, enabling precise differentiation from phenotypically similar sclerosing bone dysplasias such as osteopetrosis and other high-bone-mass disorders. Massively parallel next-generation sequencing combined with MLPA backup ensures single-nucleotide, indel, and copy number variation capture at 99.9% diagnostic sensitivity.
| Feature | Our NGS Test (SOST) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Massively Parallel NGS + MLPA backup | Capillary Sequencing, exon by exon |
| Diagnostic Sensitivity | 99.9% (single‑nucleotide & CNV) | ~95% (may miss deep intronic/CNV) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price/Value (AED) | 2,800 | 2,200–2,600 (limited scope) |
Physician Insight & Safety Protocols
"A positive SOST mutation can be an emotionally challenging finding, yet it provides a definitive molecular diagnosis that empowers your care team to anticipate and manage cranial nerve compression risks before irreversible damage occurs. Every result must be reviewed alongside a certified genetic counselor and your orthopaedic specialist, because the presence of a mutation does not automatically predict disease severity or the optimal timing of surgical interventions. My role is to ensure the genomic data is accurately interpreted within the full context of your clinical presentation and family pedigree."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Important Clinical Advisory
⚠️ Do not discontinue prescribed medication or delay surgical consultation solely based on a positive genetic result. Never adjust calcium or vitamin D intake without your treating physician's explicit supervision. A genetic finding is one component of a multidisciplinary care plan, not a substitute for clinical judgment.
Exclusion Criteria & Emergency Red Flags
- Sample Exclusion: Degraded DNA extracted from non‑standard sources; whole blood collected in expired collection tubes; sample received greater than 72 hours post-collection without verified cold-chain documentation.
- Clinical Exclusion: This test is not intended as a screening tool for asymptomatic individuals with no family history of sclerosing bone dysplasia. Mandatory pre‑test genetic counselling with a three-generation pedigree chart is required prior to sample collection for all patients, including minors.
- Emergency Red Flags: While awaiting results, if you develop new‑onset hearing loss, facial numbness, severe headaches, or vision disturbances, seek immediate emergency department evaluation—these signs may indicate cranial nerve compression from progressive bone overgrowth and require urgent neurosurgical assessment, not laboratory re‑testing.
Patient FAQ & Clinical Guidance
1. What is the advantage of full SOST gene sequencing over a single-variant test for Van Buchem disease?
Full-gene NGS sequencing detects all clinically relevant point mutations, insertions, deletions, and copy number variations across the entire SOST locus with 99.9% sensitivity. Targeted single-variant assays may miss family-specific or novel pathogenic mutations, leading to false-negative results and delayed diagnosis.
2. Can my health insurance cover the 2,800 AED cost of this genetic test?
Most UAE health insurers cover medically necessary genetic testing when supported by a DHA-referral and prior approval documentation. Submit your referral letter, completed pedigree chart, and insurance card to our billing team via WhatsApp at +971 54 548 8731 for direct verification of your plan's benefits before the blood draw.
3. How is the sample collected for a child, and what preparation is required?
A pediatric-trained phlebotomist collects a single blood drop on an FTA card or a small venous sample during a scheduled home visit. The child must be accompanied by a legal guardian who provides written informed consent and a completed three-generation pedigree chart during the mandatory pre-test genetic counselling session. No fasting or special preparation is needed.
UAE Regulatory & Data Privacy Adherence
All genetic data generated by DNA Labs UAE is processed, stored, and transmitted in full 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. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genomic information remains confidential and is used exclusively for diagnostic interpretation under the supervision of DHA-licensed medical professionals. No genetic data is shared with third parties without your explicit written authorization.
Clinical & Logistical Metadata
| Test Name | SOST Gene Full Sequencing – Van Buchem Disease Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or FTA Card Blood Spot |
| Methodology Used | Massively Parallel Next-Generation Sequencing (NGS) + MLPA for CNV Detection |
| ICD-10-CM Code | Q78.8 |
| LOINC Code | 83443-3 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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