Test Price
2,800 AED✅ Home Collection Available
CA2 Gene Osteopetrosis (Autosomal Recessive Type 3) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين CA2 لداء تخلخل العظام النوع الثالث المتنحي الجسدي الجيني NGS في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Clinical & Logistical Excellence for UAE Patients
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing. (دقة تشخيصية بنسبة 99.9% عبر تقنية NGS المعتمدة من ISO)
- Premium Home Collection: Hospital-grade phlebotomist dispatched within 90 minutes – ISO-certified cold-chain transport of blood, DNA, or FTA card samples.
- Post-Test Guidance: 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.
Overview – Why This Test Matters
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, a condition that can present with bone fragility, skin calcifications, and immune dysfunction. يقوم الاختبار بتأكيد الطفرات المسببة للنوع الثالث من تخلخل العظام، مما يساعد في توجيه العلاج وفحص أفراد العائلة.
| 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 Protocol
“As a DHA‑licensed specialist, I remind every patient that a genetic test result must always be woven together with your personal and family history. A single variant can have uncertain significance, and only your doctor can decide if further imaging or specialist referral is needed.” — Dr. Prabhakar Reddy, DHA Lic. 61713011
⚠️ Medication Warning: 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
- 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.
- 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 – Quick, Bilingual Answers
Q: 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.
يبحث الاختبار عن طفرات جين CA2 المسؤولة عن داء تخلخل العظام المتنحي من النوع الثالث. يُنصح به لمن لديهم ألم عظام متكرر أو التهابات جلدية غير مبررة أو تاريخ عائلي للمرض.
Q: How is the sample collected, and is home collection really safe for a genetic?
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 by UAE healthcare authorities under Federal Decree‑Law No. 41 of 2024.
يقوم فني مختبر مرخص بزيارة منزلك بمعدات معقمة وسلسلة تبريد معتمدة من ISO. تستغرق العملية أقل من 15 دقيقة وتستخدم قطرة دم على بطاقة FTA أو سحب وريدي بسيط، مع الحفاظ على درجة حرارة من 2 إلى 8 مئوية حتى المختبر.
Q: 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 dermatologist, geneticist, or immunologist as needed.
النتيجة الإيجابية تؤكد التشخيص وتوجه العلاج والمشورة الوراثية للعائلة. أما السلبية فتستبعد هذا النوع فقط وقد تستدعي فحوصاً إضافية. احصل على استشارة هاتفية مجانية مع مستشار وراثة مرخص لهيئة الصحة بدبي لتفسير النتيجة.
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