Test Price
2,800 AED✅ Home Collection Available
ACY1 Gene Aminoacylase Deficiency Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Certified NGS Processing.
Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy (available daily 8 AM to 11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ACY1 Gene Aminoacylase Deficiency Genetic Test identifies pathogenic mutations in the ACY1 gene associated with a rare autosomal recessive inborn error of metabolism impairing amino acid catabolism. Early molecular diagnosis enables timely metabolic management and informed familial risk assessment. The test employs next-generation sequencing (NGS) for comprehensive coverage of coding exons and flanking intronic regions, with Sanger confirmation of all clinically significant variants.
| Feature | Our Test (Gold Standard) | Closest Alternative |
|---|---|---|
| Methodology | NGS (Next Generation Sequencing) – Full gene coverage, variant confirmation | Sanger sequencing limited to known hot-spots |
| Turnaround Time | 3–4 Weeks (Rapid & Accredited) | 6–8 Weeks |
| Regulatory Compliance | Full DHA/MOHAP compliance with Federal Decree-Law No. 45 of 2021 (PDPL) and Federal Law No. 2 of 2019 | May lack local UAE legal adherence |
| Post-Test Support | Included Genetic Counselling & Telephonic Clinical Guidance | Often outsourced or not provided |
Physician Insight & Safety Protocols
"The ACY1 NGS test provides a definitive molecular diagnosis for a condition often hidden behind non-specific neurological or metabolic symptoms. A genetic result, even when identifying a pathogenic variant, must be correlated with clinical and biochemical findings to guide management. Our genetic counselling team supports each patient through the interpretation process and helps families understand recurrence risks."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory Warning
Do not discontinue prescribed medication without consulting your doctor.
A genetic test result should never replace professional medical advice. Always discuss therapeutic adjustments with your treating physician. If you experience acute metabolic symptoms such as vomiting, lethargy, or seizures, seek immediate emergency care.
Safety Exclusion & Emergency Red Flags (Federal Decree-Law No. 4 of 2016 on Medical Liability)
Exclusion Criteria:
- Individuals unwilling to provide informed consent (mandatory pre-test genetic counselling).
- Acute illness with fever (>38.5°C) within 48 hours – reschedule the appointment.
- Recent blood transfusion (<2 weeks) may interfere with leukocyte DNA quality.
- Minors without legal guardian consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Seek Emergency Care if:
- Sudden confusion, vomiting, or seizures (metabolic decompensation).
- Rapid breathing or heart palpitations with lethargy.
- Unexplained coma or loss of consciousness.
These symptoms may indicate a metabolic crisis unrelated to the test itself — dial 998 immediately.
Patient FAQ & Clinical Guidance
1. How do I prepare for the ACY1 NGS test, and is it painful?
A standard blood draw is required — no fasting needed unless paired with other metabolic labs. The venipuncture is quick and performed by a DHA-licensed phlebotomist, causing minimal discomfort. The specimen is processed through our temperature-controlled cold-chain logistics to preserve DNA integrity.
2. What if my result is positive for an ACY1 mutation?
A positive result indicates the presence of a pathogenic variant linked to aminoacylase deficiency, but clinical correlation is essential. Our genetic counsellor will explain the precise risk, discuss metabolic management strategies, and coordinate follow-up care with your referring physician.
3. Can this test be used for prenatal diagnosis or family screening?
Yes, after appropriate genetic counselling, this test can guide reproductive risk assessment and cascade screening of at-risk relatives. All procedures comply with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 on health information technology.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE complies fully with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), governing the collection, processing, and storage of genetic and health data. All genomic information is encrypted, anonymized for research purposes, and handled with strict access controls. Our laboratory additionally adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic health records and telemedicine integration.
Clinical safety and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability, mandating informed consent for all genetic testing and counselling procedures. For questions regarding your data rights, contact our Data Protection Officer at dpo@dnalabsuae.com.
Clinical & Logistical Metadata
| Test Name | ACY1 Gene Aminoacylase Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | E72.8 |
| LOINC Code | 82301-8 |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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