Test Price
2,800 AED✅ Home Collection Available
COLQ Gene Endplate Acetylcholinesterase Deficiency Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين COLQ ونقص أستيل كولين إستراز في الصفيحة الانتهائية في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary – Precision for Complex Neurological Genetics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing. (نضمن دقة تشخيصية بنسبة 99.9% عبر معالجتنا المعتمدة بمعايير ISO)
- Premium Logistics: Hospital-Grade Home Collection via ISO Certified Cold-Chain. VIP Mobile Phlebotomy 8 AM – 11 PM.
- Clinical Guidance: Complimentary post-test telephonic clinical interpretation with a medical geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Competitive Edge
The COLQ Gene Endplate Acetylcholinesterase Deficiency NGS Test detects pathogenic variants in COLQ that cause congenital myasthenic syndrome (CMS) with endplate acetylcholinesterase deficiency. In the UAE, our test combines full gene sequencing by Next Generation Sequencing with rigorous variant classification, outperforming limited single-exon or Sanger-based approaches.
| Feature | Our Test (NGS Full Gene) | Closest Alternative (Single Gene Sanger) |
|---|---|---|
| Precision | Complete coding region ±20bp intronic boundaries; detection of SNVs, indels, CNVs | Limited to targeted amplicons; may miss deep intronic or large rearrangements |
| Methodology | Next Generation Sequencing (Illumina platform) with orthogonal confirmation | Capillary electrophoresis (Sanger) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks (often outsourced) |
Physician Insight & Safety Protocol
“This 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. Please remember that genetic results do not replace expert neurological assessment.”
— Dr. Prabhakar Reddy, DHA License No. 61713011, Consultant Neurologist & Clinical Geneticist
Medication Warning
Do not discontinue prescribed medication without consulting your doctor. A genetic diagnosis of endplate acetylcholinesterase deficiency may influence medication choices (e.g., avoidance of acetylcholinesterase inhibitors), but treatment changes must be supervised by a specialist.
Exclusion Criteria & Emergency Red Flags
- Acute respiratory distress or severe bulbar weakness – seek immediate emergency care; genetic testing is not for acute diagnosis.
- Uncontrolled seizures or rapidly progressive weakness – urgent neurological evaluation required prior to sample collection.
- No exclusion for pregnancy, but genetic counselling is mandatory. Dried blood spot on FTA card from minors must be accompanied by legal guardian consent and UAE Personal Data Protection Law (PDPL) compliance.
Patient FAQ & Clinical Guidance
1. What is the COLQ gene endplate acetylcholinesterase deficiency NGS test used for?
It is a definitive genetic assay that identifies disease-causing variants in the COLQ gene to confirm congenital myasthenic syndrome with endplate acetylcholinesterase deficiency, guiding precise treatment and family risk assessment.
2. كيف يتم إجراء اختبار الجين COLQ وما هي العينة المطلوبة؟
يتم الاختبار باستخدام تقنية التسلسل من الجيل التالي (NGS) لعينة من الدم الكامل أو الحمض النووي المستخلص أو بقعة دم جافة على بطاقة FTA، مع جلسة استشارة وراثية مسبقة.
3. How long do results take and what support is provided after the test?
Results are ready within 3 to 4 weeks and include a telephonic post- guidance session with a clinical geneticist who will explain the findings and advise on next steps including family screening or specialist referrals.
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