Test Price
2,800 AED✅ Home Collection Available
SP7 Gene Osteogenesis Imperfecta Type 12 Genetic Test in UAE
Executive Summary & Core Metrics
Executive Summary
99.9% diagnostic sensitivity via ISO 9001:2015 certified processing. Premium hospital‑grade home collection with ISO certified cold‑chain transport and VIP mobile phlebotomy. Post‑test telephonic clinical guidance included. Direct insurance billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The SP7 Gene Osteogenesis Imperfecta Type 12 Genetic Test employs next‑generation sequencing to detect pathogenic variants in the SP7 gene, confirming a diagnosis of autosomal recessive osteogenesis imperfecta type XII (OI‑XII) in patients presenting with bone fragility, multiple fractures, and skeletal deformities. This molecular diagnosis enables precise genetic counselling and tailored management.
| Feature | Our Test (SP7 NGS) | Closest Alternative (Sanger Sequencing/WES) |
|---|---|---|
| Precision | >99.9% sensitivity and specificity for targeted SP7 variants, including copy number changes | May miss large deletions/duplications; variant detection limited to exome capture biases |
| Methodology | NGS with full gene coverage, deletion/duplication analysis, and clinically validated pipeline | Sanger sequencing (single‑gene) or Whole Exome Sequencing with lower resolution for CNVs |
| Turnaround Time | 3 – 4 weeks | 4 – 8 weeks (if reflex to array or MLPA required) |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Genetics, I affirm that a positive SP7 mutation confirms Osteogenesis Imperfecta Type XII, but clinical correlation with bone mineral density, fracture history, and a comprehensive pedigree is essential. This test empowers targeted management and genetic counselling; however, results must be interpreted by a specialist clinical geneticist. Please do not make any therapeutic decisions without your managing physician.”
– Lina Osama Zaki Quteineh, DHA License No. 9294403
⚠️ Advisory: Medication & Medical Decisions
⚠️ Medication Warning:
“Do not discontinue prescribed medication without consulting your doctor.”
Exclusion Criteria & Red Flags
- Exclusion: Individuals with active severe bleeding disorders or unstable anemia are advised to postpone blood draw until medically cleared.
- Minors: Mandatory parental/legal guardian consent required in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ER Red Flags: If you experience sudden severe bone pain, new fractures, dizziness, or signs of infection after sample collection, seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the purpose of the SP7 gene test?
The SP7 gene test diagnoses osteogenesis imperfecta type 12 by identifying mutations in the osterix transcription factor gene, explaining recurrent fractures and bone deformities. This is indicated when clinical and radiological findings suggest OI type XII or in the context of familial genetic counselling. A positive result confirms the autosomal recessive inheritance and helps tailor surgical, medical, and lifestyle interventions.
2. How is the sample collected?
A simple blood draw or dried blood spot (FTA card) is collected by DHA-licensed phlebotomists via our hospital‑grade home collection service, ensuring ISO‑certified cold‑chain transport. You may choose between 2–3 mL of whole blood in an EDTA tube, extracted DNA, or a single drop of blood on an FTA card. Sample collection is available from 8 AM to 11 PM, 7 days a week, including VIP mobile phlebotomy.
3. What is the turnaround time and result delivery process?
Results are typically available within 3 to 4 weeks, after which a dedicated telephonic genetic counselling session is provided to interpret the findings. The report includes variant classification, clinical significance, and recommendations for family screening. A copy of the report can be securely shared with your referring physician upon consent.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance
All genetic data is processed 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. Your results are encrypted and accessible only to your designated healthcare team.
Clinical & Logistical Metadata
| Test Name | SP7 Gene Osteogenesis Imperfecta Type 12 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Whole blood (EDTA) or dried blood spot (FTA card) – home collection available via VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain |
| Methodology Used | Next-Generation Sequencing (NGS) with full gene coverage and CNV analysis |
| ICD-10-CM Code | Q78.0 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians