Test Price
2,800 AED✅ Home Collection Available
CA5A Gene Hyperammonemia due to Carbonic Anhydrase VA Deficiency Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary:
This advanced genetic test uses Next-Generation Sequencing (NGS) to diagnose pathogenic mutations in the CA5A gene causing hereditary hyperammonemia. Our ISO 9001:2015 certified laboratory delivers 99.9% diagnostic sensitivity, supported by VIP mobile phlebotomy for home sample collection and telephonic post-test genetic counselling.
✅ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Laboratory (Cert: INT/EGQ/2509DA/3139).
✅ 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 with a DHA-licensed genetic counsellor.
✅ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
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. 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 Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
“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 Advisory
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 Federal Decree-Law No. 4 of 2016 on Medical Liability).
- 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
1. 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. However, the severity varies; a specialist will interpret the variant in light of clinical symptoms and biochemical findings.
2. 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. For neonates, a heel prick or cord blood may be used with paediatric specialist supervision.
3. 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. Many UAE insurers recognise medically indicated genetic testing when referred by a DHA-licensed metabolic specialist.
UAE Regulatory & Data Privacy Adherence
- All personal data is processed per Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), with end-to-end encryption and limited retention.
- Health data handling complies with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical testing and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Laboratory accredited to ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and DHA/MOHAP standards for molecular diagnostics.
Clinical & Logistical Metadata
| Test Name | CA5A Gene Hyperammonemia due to Carbonic Anhydrase VA Deficiency Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks (expedited available) |
| Sample Type / Matrix | Whole blood (EDTA), dried blood spot on FTA card, or extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq platform with 100x mean coverage and clinically validated bioinformatics pipeline |
| ICD-10-CM Code | E72.2, E72.8, Z13.228 |
| LOINC Code | 81748-2 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians