Test Price
2,800 AED✅ Home Collection Available
CRTAP Gene Osteogenesis Imperfecta Type VII Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Certified Processing
- 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 Guidance in result interpretation
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The CRTAP Gene Osteogenesis Imperfecta Type VII Genetic Test analyzes the entire coding region of the CRTAP gene for pathogenic mutations, providing definitive genetic confirmation of the severe, autosomal recessive bone fragility disorder. This advanced next-generation sequencing test, performed on blood or DNA samples, delivers precise diagnostic information indispensable for clinical management, genetic counseling, and informed family planning.
Our Test vs. Closest Alternative
| Feature | CRTAP NGS (This Test) | Whole Exome Sequencing |
|---|---|---|
| Precision | 100% coverage of CRTAP exons & splicing sites | Individual gene coverage ~85%; risk of missed variants |
| Methodology | Targeted NGS + MLPA for deletions | Broad NGS with incidental findings burden |
| Turnaround Time | 3–4 Weeks | 6–10 Weeks |
| Cost (UAE) | 2,800 AED | 5,000–7,000 AED |
Physician Insight & Safety Protocols
“As a medical geneticist, I see the profound impact that a definitive diagnosis can have on families navigating osteogenesis imperfecta. This test provides clarity—confirming the genetic basis, guiding multidisciplinary care, and enabling informed reproductive choices. The results must always be integrated with a thorough clinical evaluation and family history. Our team ensures you receive comprehensive support from sample collection to result interpretation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License: 9294403
Important Clinical Advisory
This test provides genetic confirmation but does not replace clinical management for osteogenesis imperfecta. Continue all prescribed treatments, including fracture care and calcium/vitamin D supplementation, unless explicitly advised by your physician. All results should be discussed in a dedicated genetic counseling session to understand implications for you and your family.
Safety & Exclusion Criteria
- Exclusion: Minors without verified parental/guardian consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability and UAE Family Law.
- Exclusion: Inability to provide venous blood, extracted DNA, or a dried blood spot on FTA card; alternative collection methods can be discussed.
- Exclusion: Active systemic infection at the time of sample collection (postpone until resolved).
- Emergency Red Flags: Seek immediate hospital care if the patient experiences sudden severe bone pain, inability to move a limb, breathing difficulties, or signs of spinal cord compression before or after sample collection.
Patient FAQ & Clinical Guidance
1. What is the CRTAP gene and how does it relate to Osteogenesis Imperfecta Type VII?
CRTAP gene mutations cause Osteogenesis Imperfecta Type VII, a severe, autosomal recessive bone fragility disorder confirmed by this genetic test. The CRTAP gene encodes cartilage-associated protein, a critical partner of collagen modification. When both copies carry a pathogenic variant, collagen is abnormally formed, leading to frequent fractures, progressive bone deformities, and often life-limiting complications. This test detects these mutations with high precision.
2. How is the CRTAP gene test performed and what is the turnaround time?
The test uses next-generation sequencing of the entire CRTAP gene from a blood or DNA sample, with results in 3 to 4 weeks. A single blood draw (or buccal swab/FTA card) is collected at home or in a clinic. DNA is extracted and analyzed using high-coverage NGS, supplemented by copy number analysis to catch large deletions. The final report includes variant classification per ACMG guidelines and a clinical interpretation.
3. What do positive CRTAP test results mean for patients and families?
A positive CRTAP result confirms Osteogenesis Imperfecta Type VII, guiding management and enabling genetic counseling for family planning. It indicates that the patient has two mutated copies of the gene, explaining existing symptoms and predicting recurrence risk (25%) in future pregnancies. Management includes a multidisciplinary team approach—orthopedic care, physiotherapy, bisphosphonate therapy—and cascade testing of at-risk relatives is recommended.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This service adheres to 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. All genetic data is handled with strict confidentiality and security. Laboratory operations follow ISO 15189:2012 standards. Facility licensed by the Dubai Health Authority under license number 1143. Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Pre-requisite: Clinical history and a genetic counseling session to construct a pedigree of family members affected by CRTAP-related conditions. For queries or home collection, WhatsApp +971 54 548 8731 (8 AM – 11 PM).
Clinical & Logistical Metadata
| Test Name | CRTAP Gene Osteogenesis Imperfecta Type VII Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or Buccal Swab / DNA Sample |
| Methodology Used | Next-Generation Sequencing (NGS) + MLPA for Copy Number Variants |
| ICD-10-CM Code | Q78.0, Z15.89, Z82.79 |
| LOINC Code | 93043-6 |
| DHA Facility License & Laboratory Address | License No: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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