Test Price
2,800 AED✅ Home Collection Available
ACHE Gene Acetylcholinesterase Deficiency Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
This advanced NGS genetic test screens the entire coding region of the ACHE gene for pathogenic variants responsible for acetylcholinesterase deficiency—a rare metabolic disorder that may cause prolonged apnea after anaesthesia. The test delivers a diagnostic sensitivity of 99.9% via ISO‑accredited processing and includes telephonic post‑test clinical guidance.
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑accredited processing.
- Premium Logistics: VIP Mobile Phlebotomy & temperature‑controlled cold‑chain home collection (available daily 8 AM–11 PM).
- Clinical Guidance: Telephonic post‑test interpretation support.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The test uses next‑generation sequencing (NGS) to analyse the complete coding region and splice‑site junctions of the ACHE gene. It detects single‑nucleotide variants, small insertions/deletions, and known pathogenic alterations associated with acetylcholinesterase deficiency. Results are correlated with clinical phenotype to guide pre‑anaesthetic risk assessment.
How Our Genetic Test Compares
| Feature | Our Genetic Test | Enzyme Activity Assay |
|---|---|---|
| Precision | Single‑nucleotide resolution; detects known and novel mutations | Indirect measure; may miss carriers or mild deficiencies |
| Methodology | Next‑generation sequencing with full gene coverage | Biochemical kinetic assay |
| Turnaround | 3–4 weeks | 1–2 weeks |
| Carrier Detection | Yes – identifies heterozygous variants | Unreliable; often normal in carriers |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
“Acetylcholinesterase deficiency is a silenced risk that can become life‑threatening under anaesthesia. I strongly advise individuals with a family history of prolonged post‑operative apnoea or unexplained respiratory failure after surgery to undergo this genetic test before any elective procedure. The result must always be integrated with a full clinical evaluation and cannot replace intra‑operative preparedness.”
Advisory – Medication & Sample Collection
Do not discontinue prescribed medications without consulting your doctor.
If you are taking anticoagulants, inform your phlebotomist. A single venous blood sample (5 mL in EDTA) is required; no fasting is necessary. VIP mobile phlebotomy is available daily from 8 AM to 11 PM via temperature‑controlled cold‑chain logistics.
Safety Exclusion & Emergency Red Flags
- Exclusion criteria: acute febrile illness, blood transfusion within the past 4 weeks, or ongoing immunosuppressive therapy that may affect DNA yield.
- Emergency red flags: sudden muscle weakness, respiratory distress, cyanosis, or prolonged apnoea lasting more than 5 minutes – seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the ACHE gene test and why is it needed?
This genetic test detects mutations in the ACHE gene that cause acetylcholinesterase deficiency, increasing the risk of prolonged apnoea after exposure to succinylcholine or similar anaesthetic agents. It is recommended for individuals with a family history of abnormal anaesthesia reactions, unexplained post‑operative respiratory failure, or known carrier status. The test provides definitive genetic confirmation and guides anaesthetic drug selection to prevent life‑threatening episodes.
2. How should I prepare for the blood sample collection?
No fasting is required. You should provide a detailed clinical history and attend a genetic counselling session to map the family pedigree. Avoid taking blood‑thinning medications for 24 hours before the draw unless otherwise advised by your doctor. The sample is a single venous blood draw, which can be collected at home via our VIP mobile phlebotomy service under cold‑chain conditions.
3. How reliable are the results and what is the turnaround time?
Our ISO‑certified NGS platform achieves 99.9% analytical sensitivity and specificity for all clinically reported ACHE variants. Results are available in 3 to 4 weeks and include a comprehensive interpretation report reviewed by a Consultant Medical Genetics. For urgent pre‑surgical scenarios, please contact our team to discuss potential priority processing.
UAE Regulatory & Data Privacy Adherence
Compliance Framework: This genetic test is performed under the regulatory oversight of the Dubai Health Authority (DHA). All patient data handling complies 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. The laboratory operates under ISO 9001:2015 quality management (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | ACHE Gene Acetylcholinesterase Deficiency Genetic Analysis (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (5 mL EDTA) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection |
| Methodology Used | Next‑Generation Sequencing (NGS) – full gene coverage, 99.9% sensitivity |
| ICD‑10‑CM Code | E85.8 – Other specified amyloidosis (acetylcholinesterase deficiency equivalent); Z13.71 – Encounter for genetic testing for other specified disorder |
| LOINC Code | 77607-5 – ACHE gene targeted mutation analysis in Blood or Tissue by NGS |
| 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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ISO Accredited
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All reports reviewed by DHA-Certified physicians