Test Price
2,800 AED✅ Home Collection Available
CA2 Gene Osteopetrosis (Autosomal Recessive Type 3) Genetic Test in UAE – 2800 AED – DHA Licensed & PDPL Compliant
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 15189 accredited NGS processing.
- Premium Home Collection: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. A DHA-licensed phlebotomist visits your home with a sterile kit.
- Post-Test Guidance: Complimentary 15-minute tele-consultation with a DHA-licensed genetic counsellor to interpret your result and plan next steps.
- Insurance Approval: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next‑Generation Sequencing (NGS) analysis scans the entire coding region of the CA2 gene to confirm or rule out autosomal recessive osteopetrosis type 3. The condition presents with bone fragility, skin calcifications, and immune dysfunction. Early genetic diagnosis enables targeted treatment and informed family planning.
| Feature | Our Test (NGS) | Traditional Sanger Sequencing |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity, full gene coverage | ~99%, limited to known hotspots |
| Methodology | NGS (Illumina® platform) + bioinformatic variant interpretation | Capillary electrophoresis, single-amplicon walk |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Sample Types Accepted | Whole blood, extracted DNA, or one drop of blood on FTA card | Usually requires 2–5 mL venous blood |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics in the UAE, I stress that every genetic result must be interpreted within the full clinical context. A single variant may be of uncertain significance, and a confirmed diagnosis guides not only treatment but also carrier screening for at-risk relatives. Always consult with your genetic counsellor before making medical decisions.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication Guidance
Do not discontinue any prescribed medication, especially calcium or vitamin D supplements, without consulting your treating physician. Abrupt changes can destabilise bone metabolism in osteopetrosis.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Inability to provide informed, legally valid consent (patient or guardian).
- Blood sample showing gross hemolysis, clotting, or contamination – recollection will be advised at no extra charge.
- Known use of illegal substances that could compromise DNA integrity.
Emergency Red Flags
Urgent care needed if you experience: sudden severe bone pain, unexplained fractures, vision or hearing loss, or signs of bone marrow failure (paleness, petechiae, recurrent infections). Proceed to the nearest emergency department and inform them of suspected osteopetrosis.
Patient FAQ & Clinical Guidance
1. What exactly does the CA2 gene test look for, and who should consider it?
The test detects DNA mutations in the CA2 gene responsible for autosomal recessive osteopetrosis type 3. It is suitable for children and adults with bone pain, recurrent infections, or skin findings suggestive of the disorder, as well as couples planning a family when both are carriers.
2. How is the sample collected, and is home collection safe for a genetic test?
A DHA‑licensed phlebotomist visits your home with a sterile kit and ISO‑certified cold‑chain transport. The process takes less than 15 minutes and uses a single drop of blood on an FTA card or a standard venous draw. All materials are single‑use, and the transporter maintains a continuous 2–8°C chain until the lab processes the DNA. This method is approved under the UAE’s Federal Decree-Law No. 2 of 2019 on health information technology.
3. What does a positive or negative result mean, and can I get help interpreting it?
A positive result confirms the diagnosis and enables precise medical management and family genetic counselling. A negative result may rule out the disease but does not exclude other osteopetrosis subtypes. You will receive a complimentary 15‑minute tele‑consult with a DHA‑licensed genetic counsellor to explain every line of the report and guide referral to a geneticist or immunologist as needed.
UAE Regulatory & Data Privacy Adherence
Compliance with UAE Health Data Protection Framework
All genetic data handling and storage comply 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 testing safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic information is encrypted, anonymised, and used solely for diagnostic purposes.
Clinical & Logistical Metadata
| Test Name | CA2 Gene Osteopetrosis (Autosomal Recessive Type 3) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole blood, extracted DNA, or FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) on Illumina® platform |
| ICD-10-CM Code | Q78.2 |
| LOINC Code | 55132-0 |
| DHA Facility License & Laboratory Address Invariants | DHA License No. 1143 – DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians