Test Price
2,800 AED✅ Home Collection Available
SOST Gene Craniodiaphyseal Dysplasia Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
High-Definition Genetic Screening for SOST Pathogenic Variants
Next-generation sequencing (NGS) analysis of the SOST gene to detect autosomal dominant craniodiaphyseal dysplasia, a rare sclerosing bone disorder. This test delivers early, precise genetic confirmation to guide clinical management and family counseling, fully aligned with Dubai Healthcare City diagnostic standards and Federal data protection regulations.
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test consultation for result interpretation and specialist referral pathways.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This NGS-based genetic test analyzes the SOST gene for pathogenic variants linked to craniodiaphyseal dysplasia, a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth and facial distortion. Comprehensive coverage of all coding exons and splice junctions ensures high-confidence variant detection.
| Attribute | Our Test | Closest Alternative |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) – high coverage, multi-exon analysis | Sanger Sequencing – targeted single-variant detection |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| Price | 2,800 AED | 3,500 AED |
| Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Local laboratory (may lack ISO certification) |
Physician Insight & Safety Protocols
“As the lead clinical genetics consultant for this diagnostic service, I emphasize that a positive SOST variant result must always be interpreted alongside clinical examination and radiographic findings. Early confirmation enables proactive surveillance for craniofacial complications, hearing impairment, and neurological sequelae. The genetic finding alone does not replace comprehensive clinical evaluation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre-Test Safety Advisory
Important Pre-Test Instructions
No specific dietary or medication modifications are required for this blood-based genetic test. However, please inform the phlebotomist of any anticoagulant therapy or bleeding disorders prior to sample collection.
Exclusion Criteria & ER Red Flags:
- Pregnant women: consult with your obstetrician before proceeding, as genetic counseling should precede testing.
- Active systemic infection or severe coagulopathy – postpone blood draw until clinical clearance is obtained.
- Minors require guardian informed consent per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ER Red Flags: sudden severe headache with vision changes, new-onset seizures, rapid increase in head circumference – seek immediate emergency care before testing.
Patient FAQ & Clinical Guidance
1. What is the purpose of the SOST gene test?
This targeted genetic analysis identifies pathogenic variants in the SOST gene to confirm a clinical diagnosis of craniodiaphyseal dysplasia. A positive result enables precision management, including surveillance for bone overgrowth complications, hearing assessment, and genetic counseling for at-risk family members.
2. How is the sample collected?
A peripheral blood sample is drawn by a DHA-licensed phlebotomist during a VIP mobile home visit. We utilize temperature-controlled cold-chain logistics to ensure specimen integrity. For infants or difficult draws, an FTA card (dried blood spot) collection can be arranged. Home collection is available daily from 8 AM to 11 PM.
3. What do the results mean?
A positive result confirms the genetic diagnosis of craniodiaphyseal dysplasia and provides a molecular basis for the skeletal phenotype. It guides surveillance for complications such as foraminal stenosis, optic atrophy, and hearing loss. A negative result reduces the likelihood of SOST-mediated disease but does not exclude other genetic or acquired bone dysplasias. Post-test genetic counseling is included.
4. Who should consider this test?
Individuals with clinical features suggestive of craniodiaphyseal dysplasia, including progressive craniofacial hyperostosis, metaphyseal widening, and elevated bone density on imaging. First-degree relatives of a confirmed case may also benefit from predictive testing after genetic counseling.
UAE Regulatory & Data Privacy Adherence
Data Protection & Clinical Governance
All genetic data generated by DNA Labs UAE is processed and stored 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. Patient consent and medical liability adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genomic information is encrypted, access-controlled, and never shared with third parties without explicit written authorization.
Clinical & Logistical Metadata
| Test Name | SOST Gene Craniodiaphyseal Dysplasia Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (3-5 mL EDTA) or FTA dried blood spot |
| Methodology Used | Next-Generation Sequencing (NGS) – full coding exons and splice junctions |
| ICD-10-CM Code | Q78.8 (Other specified osteochondrodysplasias) |
| LOINC Code | 60512-8 (SOST gene targeted mutation analysis) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians