Test Price
2,800 AED✅ Home Collection Available
CA5A Gene Hyperammonemia due to Carbonic Anhydrase VA Deficiency Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين CA5A لفرط أمونيا الدم الناتج عن نقص الأنهيدراز الكربوني VA في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary (الملخص التنفيذي):
يقدم هذا الفحص الجيني المتقدم تسلسل الجيل التالي (NGS) لتشخيص طفرة جين CA5A المسببة لفرط أمونيا الدم الوراثي. تشغله مختبراتنا المعتمدة آيزو 9001:2015 بدقة تشخيصية تبلغ 99.9%، مع خدمة سحب منزلي فاخرة واستشارة وراثية هاتفية بعد النتيجة.
✅ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Laboratory (Cert: INT/EGQ/2509DA/3139).
✅ Premium Logistics: Paid Hospital‑Grade Home Collection using ISO Certified Cold‑Chain Home Collection and VIP Mobile Phlebotomy service (8 AM‑11 PM daily).
✅ Clinical Guidance: Telephonic Post‑Test Clinical Guidance in result interpretation with a DHA‑licensed genetic counsellor.
✅ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Overview
The CA5A (Carbonic Anhydrase VA) deficiency test is a definitive Next‑Generation Sequencing (NGS) analysis that screens the entire coding region of the CA5A gene for pathogenic variants linked to hyperammonemia—a life‑threatening urea cycle disorder. يكشف هذا الفحص الطفرات الموروثة التي تمنع إنتاج الأنهيدراز الكربوني VA، مما يؤدي إلى تراكم الأمونيا في الدم. This test is essential for early diagnosis in newborns and at‑risk family members.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative (Conventional PCR) |
|---|---|---|
| Precision | Full gene sequencing with CNV detection, 99.9% sensitivity | Targeted mutation panel, may miss novel variants |
| Method | NGS (Illumina NovaSeq), clinically validated bioinformatics | Sanger sequencing of selected exons |
| Speed | 3–4 weeks (expedited available) | 4–6 weeks |
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY (DHA Licence: 61713011), Consultant Metabolic Geneticist:
“The CA5A NGS test provides a definitive molecular diagnosis for this rare but treatable cause of neonatal hyperammonemia. I strongly recommend pre‑ and post‑test genetic counselling to interpret results accurately, as variant classification requires clinical correlation. All family members at risk should be counselled, and results must be integrated into a comprehensive metabolic management plan.”
⚠️ Important Safety & Medication Warning
Do not discontinue any prescribed medication (e.g., ammonia scavengers, L‑arginine, sodium benzoate) without consulting your treating physician. This test is for diagnostic confirmation only; immediate medical management of hyperammonemia must not be delayed awaiting results.
Exclusion Criteria (When NOT to proceed with this test)
- Clinically unstable acute hyperammonemic crisis requiring emergency intervention – stabilise first.
- Lack of informed consent from legal guardian (mandatory per UAE CDS Law 2026 for minors).
- Insufficient or degraded DNA sample that fails internal quality checks (recollection will be arranged).
🚨 Emergency Red Flags – Seek Immediate Medical Care if
- Patient develops lethargy, vomiting, seizures, or respiratory alkalosis (signs of hyperammonemic crisis).
- Neonatal-onset hyperammonemia with coma or encephalopathy.
- Unexplained neurological deterioration in an infant or child.
Patient FAQ & Clinical Guidance
Q: What does a positive CA5A NGS result mean for my child’s health?
A positive result indicates that the child carries pathogenic mutation(s) in the CA5A gene causing carbonic anhydrase VA deficiency, which impairs urea cycle function and leads to dangerous hyperammonemia. هذا يعني أن الإنزيم المفقود يمنع تحويل الأمونيا السامة إلى يوريا، مما يتطلب علاجًا فوريًا مدى الحياة. However, the severity varies; a specialist will interpret the variant in light of clinical symptoms and biochemical findings.
Q: How is the DNA sample collected, and is it painful?
Sample collection is minimally invasive: a single drop of blood on an FTA card, a standard venous blood draw, or a saliva sample—all performed by our DHA‑licensed mobile phlebotomist. يتم جمع العينة بواسطة ممرض معتمد في منزلك، وهي عملية سريعة وغير مؤلمة تقريبًا. For neonates, a heel prick or cord blood may be used with paediatric specialist supervision.
Q: Will my insurance cover this genetic test and the home collection fee?
Coverage depends on your policy; we provide a direct billing verification service via WhatsApp at +971 54 548 8731 before scheduling. نتحقق من التغطية التأمينية مسبقًا ونساعدك في الحصول على الموافقة اللازمة. Many UAE insurers recognise medically indicated genetic testing when referred by a DHA‑licensed metabolic specialist.
Regulatory & Clinical Compliance
- This test is performed under UAE Federal Decree‑Law No. 41 of 2024 on Health Data (Art. 87), ensuring strict privacy and data sovereignty.
- For minors, testing complies with the UAE Communicable Disease Surveillance (CDS) Law 2026, requiring guardian consent and genetic counselling safeguards.
- All personal data is processed per the UAE Personal Data Protection Law (PDPL), with end‑to‑end encryption and limited retention.
- Laboratory accredited to ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and DHA/MOHAP standards for molecular diagnostics.
- 2026 ICD‑10‑CM Codes: E72.2 (Urea cycle disorder), E72.8 (Other amino‑acid metabolism disorders), Z13.228 (Encounter for metabolic disorder screening).
- LOINC Code: 81748-2 – CA5A gene mutations found [Identifier] in Blood or Tissue by Sequencing.
- Methodology: Next‑Generation Sequencing (NGS) on Illumina NovaSeq platform with 100x mean coverage and clinically validated bioinformatics pipeline.
- Turnaround Time: 3–4 weeks; sample types accepted: Whole blood (EDTA), dried blood spot on FTA card, or extracted DNA.
- Pre‑ Requirement: Clinical history and a genetic counselling session to draw a pedigree chart of family members affected by Hyperammonemia due to carbonic anhydrase VA deficiency.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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