Test Price
2,800 AEDโ Home Collection Available
COLQ Gene Endplate Acetylcholinesterase Deficiency Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Precision for Complex Neurological Genetics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing with orthogonal confirmation for all pathogenic variants.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across Dubai and the Northern Emirates.
- Clinical Guidance: Complimentary post-test telephonic clinical interpretation with a Consultant Medical Geneticist from DNA Labs UAE.
- Insurance: Direct billing verification available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The COLQ Gene Endplate Acetylcholinesterase Deficiency NGS Test detects pathogenic variants in the COLQ gene responsible for congenital myasthenic syndrome (CMS) with endplate acetylcholinesterase deficiency. This definitive genetic assay employs full gene sequencing using Next Generation Sequencing (NGS) on an Illumina platform, covering the complete coding region and ยฑ20 base-pair intronic boundaries. This approach detects single nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variants (CNVs) with high precision, significantly outperforming limited single-exon or Sanger-based methods that can miss deep intronic or large rearrangement events.
| Feature | Our Test (NGS Full Gene) | Closest Alternative (Single Gene Sanger) |
|---|---|---|
| Precision | Complete coding region ยฑ20bp intronic boundaries; SNVs, indels, and CNVs detected | Limited to targeted amplicons; deep intronic or large rearrangements often missed |
| Methodology | Next Generation Sequencing (Illumina) with orthogonal variant confirmation | Capillary electrophoresis (Sanger sequencing) |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks (often outsourced) |
Physician Insight & Safety Protocols
โThis advanced NGS test is a critical step in confirming congenital myasthenic syndrome due to COLQ deficiency. A positive result must be correlated with clinical symptoms and electrophysiological findings, and family cascade screening is strongly recommended. The genetic findings guide precise therapeutic decisions, such as avoiding acetylcholinesterase inhibitors in appropriate clinical contexts, but must never replace a comprehensive neurological assessment.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Safety Advisory
Medication Caution
Patients must never discontinue or adjust prescribed medications, including acetylcholinesterase inhibitors, without explicit direction from their treating neurologist. A genetic diagnosis of endplate acetylcholinesterase deficiency may inform future medication choices, but all treatment modifications require specialist supervision to prevent clinical deterioration.
Exclusion Criteria & Emergency Red Flags
- Acute respiratory distress or severe bulbar weakness โ seek immediate emergency care; this genetic test is not indicated for acute diagnostic triage.
- Uncontrolled seizures or rapidly progressive weakness โ urgent neurological evaluation is mandatory before sample collection proceeds.
- Pregnancy does not exclude testing, but mandatory genetic counselling and written informed consent are required. For minors, a dried blood spot on FTA card must be accompanied by legal guardian consent compliant with UAE Personal Data Protection Law (PDPL).
Patient FAQ & Clinical Guidance
1. What is the COLQ gene endplate acetylcholinesterase deficiency NGS test used for?
This definitive genetic assay identifies disease-causing variants in the COLQ gene to confirm congenital myasthenic syndrome with endplate acetylcholinesterase deficiency. Results guide precise treatment planning, prognosis, and family risk assessment through cascade screening of at-risk relatives.
2. What sample types are accepted for this genetic test?
The test accepts peripheral whole blood collected via venipuncture, extracted genomic DNA, or a dried blood spot on an FTA card. A VIP Mobile Phlebotomist can collect samples at your home between 8 AM and 11 PM daily using temperature-controlled cold-chain logistics. A pre-test genetic counselling session is scheduled before sample collection to confirm clinical indication and obtain informed consent.
3. How long do results take and what post-test support is provided?
Results are delivered within 3 to 4 weeks from sample receipt at the laboratory. Every report includes a complimentary telephonic guidance session with a Consultant Medical Geneticist who explains the findings in the context of your clinical history, discusses implications for family members, and coordinates referrals to neurology specialists within the DNA Labs UAE network.
4. Is this test covered by health insurance in the UAE?
DNA Labs UAE offers direct billing verification services for select insurance plans. Patients are advised to contact our billing team via WhatsApp at +971 54 548 8731 prior to sample collection to confirm coverage and obtain pre-authorization documentation. Out-of-pocket pricing is 2,800 AED with no hidden fees.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and adheres to the highest standards of clinical data protection and patient privacy. All genetic testing and associated data handling are governed by the following UAE federal frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governing the collection, processing, and storage of personal and genetic data with explicit patient consent and data minimization principles.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ regulating electronic health records, telemedicine, and digital health data security within UAE healthcare facilities.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ establishing the legal framework for clinical safety, patient consent, and professional accountability in diagnostic testing and therapeutic guidance.
All genetic results are encrypted, access-controlled, and retained in compliance with DHA data retention policies. Patients retain the right to access, correct, or request deletion of their data subject to applicable legal exceptions.
Clinical & Logistical Metadata
| Test Name | COLQ Gene Endplate Acetylcholinesterase Deficiency NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted Genomic DNA, or Dried Blood Spot on FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) โ Illumina Platform with Orthogonal Variant Confirmation |
| ICD-10-CM Code | G70.2 (Congenital Myasthenic Syndrome) / G70.0 (Myasthenia Gravis โ differential) |
| LOINC Code | 90218-5 โ COLQ gene mutation analysis in Blood or Tissue by Molecular genetics method |
| DHA Facility License & Address | DHA Facility License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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