Test Price
2,800 AED✅ Home Collection Available
CPS1 Gene (Carbamoylphosphate Synthetase I Deficiency) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑Accredited Processing – definitive detection of CPS1 mutations using next‑generation sequencing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM, with ISO‑certified transport.
- Clinical Guidance: Post‑test telephonic counselling by our DHA‑licensed clinical genetics team to interpret results and plan next steps.
- Insurance Verification: Direct billing confirmation via WhatsApp +971 54 548 8731 before sample collection.
Test Overview & Methodology
The CPS1 Gene Genetic Test is a comprehensive next‑generation sequencing analysis of all exons of the CPS1 gene, confirming carbamoylphosphate synthetase I deficiency – a severe urea cycle disorder that causes life‑threatening hyperammonemia. High‑throughput NGS provides full gene coverage with 99.9% analytical sensitivity and specificity, enabling early dietary and pharmacological intervention to prevent neurological damage.
| Feature | Our CPS1 NGS Test | Closest Alternative (Sanger / Biochemical) |
|---|---|---|
| Precision | 99.9% analytical sensitivity & specificity | Limited – may miss deep intronic or mosaic variants |
| Methodology | High‑throughput NGS – full gene coverage | Sanger sequencing of target exons or enzyme assay from liver biopsy |
| Turnaround Time | 3 to 4 weeks | Often 6‑8 weeks or more |
| Sample Requirement | Whole blood, extracted DNA, or dried blood spot on FTA card | Fresh blood or invasive tissue |
Physician Insight & Safety Protocols
“Genetic diagnosis of urea cycle disorders must always be correlated with plasma ammonia and amino acid profiles. A positive CPS1 result confirms the disease, yet a negative result does not exclude other metabolic conditions – further evaluation with whole‑exome sequencing may be required. Patients must not discontinue prescribed ammonia‑scavenging medications without consulting their physician.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Safety Advisory
A mandatory genetic counselling session is required before sample collection to document family pedigree and clinical history. No fasting or special preparation is needed unless advised by your physician. Do not stop any prescribed medication without medical guidance.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Acute febrile illness, known bleeding disorder, or inability to give informed consent. The test should not be performed during an acute hyperammonemic crisis; stabilise the patient first.
- Emergency Red Flags: If the patient experiences sudden vomiting, profound lethargy, seizures, or altered consciousness, go to the nearest emergency department immediately.
Patient FAQ & Clinical Guidance
1. What is the CPS1 Gene Genetic Test and why is it needed?
The CPS1 Genetic Test detects CPS1 gene mutations causing carbamoylphosphate synthetase I deficiency, a urea cycle disorder that leads to hyperammonemia. This definitive molecular test confirms the diagnosis in symptomatic individuals or screens at‑risk family members, enabling early dietary and pharmacological intervention to prevent neurological damage.
2. How is the sample collected and when will I receive results?
A certified phlebotomist collects a small blood sample at your home, work, or clinic via our VIP Mobile Phlebotomy service (available daily 8 AM to 11 PM). Results are ready within 3 to 4 weeks. The sample can also be provided as extracted DNA or a dried blood spot on an FTA card, with the same turnaround time. We verify insurance coverage beforehand.
3. Is this test covered by insurance and are genetic counselling services available?
Most UAE insurance plans cover genetic testing for inherited metabolic disorders; we verify benefits directly via WhatsApp +971 54 548 8731. A mandatory genetic counselling session is included, ensuring you understand the implications for your child and family, with results explained by our DHA‑licensed clinical genetics team.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance
All genetic test data is processed in full compliance 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 safety and patient consent procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability and ISO 9001:2015 standards (Cert: INT/EGQ/2509DA/3139). Your genetic information is encrypted, access‑controlled, and never shared without explicit written consent.
Clinical & Logistical Metadata
| Test Name | CPS1 Gene (Carbamoylphosphate Synthetase I Deficiency) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood, extracted DNA, or dried blood spot on FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) |
| ICD-10-CM Code | E72.21 |
| LOINC Code | 93397-8 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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