Test Price
2,800 AEDโ Home Collection Available
BCHE Gene Butyrylcholinesterase Deficiency Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Precision: 99.9% sensitivity at the mutation level via ISO 9001:2015 certified next-generation sequencing.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection: Available daily from 8 AM to 11 PM for all standard blood, serum, or plasma specimens.
- Post-Test Clinical Guidance: Complimentary telephone consultation with a DHA-licensed genetics specialist for result interpretation.
- Insurance Verification: Direct coverage check via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test comprehensively analyzes the BCHE gene to diagnose butyrylcholinesterase deficiency, an inherited metabolic disorder that impairs the breakdown of choline esters. Identifying pathogenic mutations enables anaesthesiologists to select safe alternatives to succinylcholine and mivacurium, preventing prolonged paralysis and ventilator dependency during surgery.
| Feature | Our NGS BCHE Test | Traditional Enzyme Assay |
|---|---|---|
| Diagnostic Sensitivity | 99.9% (mutation-level) | ~85% (activity-based) |
| Methodology | Next-Generation Sequencing (NGS) with full gene coverage | Biochemical assay of plasma cholinesterase activity |
| Turnaround Time | 3โ4 Weeks | 1โ2 Days |
| Clinical Utility | Identifies carriers, predictive for anesthesia planning, permanent record | Reflects current activity only; may miss heterozygotes |
| Sample Type | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | Plasma (Lithium Heparin tube) |
Physician Insight & Safety Protocols
"Genetic testing for BCHE deficiency offers a critical layer of preoperative safety. Identifying at-risk individuals before anesthesia administration can prevent life-threatening complications. I encourage all patients with a family history of anesthetic reactions to consider this test and discuss the results with their healthcare team."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Medication Advisory
Do not discontinue any prescribed medication without consulting your doctor. This genetic test does not override current treatment plans.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Collect Sample If): Severe haemophilia, active anticoagulant therapy without physician clearance, inability to provide a minimum 200 ยตL blood, or known allergy to phlebotomy materials.
Emergency Red Flags: If you or a family member experiences prolonged paralysis after anesthesia, breathing difficulties, or unexpected muscle weakness, seek immediate emergency medical attention and inform the treating team about possible butyrylcholinesterase deficiency.
Patient FAQ & Clinical Guidance
1. What is butyrylcholinesterase deficiency and why is BCHE gene testing crucial for anesthesia safety?
Snippet: BCHE genetic testing detects mutations causing pseudocholinesterase deficiency, preventing prolonged paralysis from succinylcholine during anesthesia.
The test pinpoints variations in the BCHE gene that produce a defective butyrylcholinesterase enzyme. Without this enzyme, commonly used anesthetics like succinylcholine and mivacurium are not broken down, leading to extended muscle paralysis and ventilator dependency. Identifying at-risk individuals allows anaesthesiologists to select safe alternatives.
2. How is the BCHE NGS test performed and what sample is required?
Snippet: BCHE gene analysis requires a small blood sample, oral swab, or dried blood spot card.
Our home collection team arrives with a phlebotomy kit. For whole blood, a standard venipuncture is performed. Alternatively, a painless buccal swab or a finger-prick dried blood spot on an FTA card can be used, ideal for infants or anxious patients. All samples are shipped at controlled temperatures to our ISO-certified laboratory.
3. What should I do if my BCHE result is positive for deficiency?
Snippet: A positive result necessitates alerting all healthcare providers to avoid succinylcholine and certain ester local anesthetics.
Carry a medical alert card or digital notification listing your BCHE deficiency. Share the full report with your surgeon, anaesthesiologist, and dentist before any procedure. Inform family members, as this is an inheritable condition, and recommend genetic counselling. Your DHA-licensed telehealth counsellor is available for result interpretation.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE strictly adheres to 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. All genetic data is encrypted, access-controlled, and processed solely for clinical diagnostic purposes. Clinical safety and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Your results remain confidential and are never shared without explicit written authorization.
Clinical & Logistical Metadata
| Test Name | BCHE Gene Butyrylcholinesterase Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks (21โ28 Calendar Days) |
| Sample Type / Matrix | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) with full gene coverage |
| ICD-10-CM Code | E70.3 (Pseudocholinesterase deficiency) |
| LOINC Code | 21671-0 (BCHE gene mutation analysis) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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