Test Price
2,800 AED✅ Home Collection Available
COL6A2 (Ullrich Congenital Muscular Dystrophy) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين COL6A2 للحثل العضلي الخلقي من نوع أولريش في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139). Every nucleotide is sequenced to ≥30x depth with full exon coverage and splice site analysis.
- PREMIUM LOGISTICS Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy from 8 AM to 11 PM. Sample integrity maintained at 2–8°C throughout.
- Clinical Guidance: Complimentary 15-minute telephonic post-test clinical guidance session with a DHA-registered medical geneticist to interpret results in context of family and clinical history.
- Insurance: Direct Billing Verification and pre-authorisation support via WhatsApp at +971 54 548 8731. We work with all major UAE insurers.
ملخص تنفيذي
يوفر هذا الاختبار التشخيص الجيني القاطع للحثل العضلي الخلقي من نوع أولريش عبر تحليل شامل للجين COL6A2 بتقنية التسلسل الجيني (NGS) وفق معايير هيئة الصحة بدبي 2026. حساسية تشخيصية 99.9%، مع جمع عينات منزلية مبردة وإرشاد إكلينيكي بعد النتيجة.
Test Overview
This NGS test analyses the entire coding sequence and exon–intron boundaries of the COL6A2 gene to detect single nucleotide variants, small indels, and copy number changes associated with Ullrich congenital muscular dystrophy (UCMD)—a severe early-onset collagen VI-related myopathy. يكشف الاختبار عن الطفرات المسببة للحثل العضلي الخلقي من نوع أولريش بدقة تفوق الطرق التقليدية.
| Feature | Our Test (DHA-Aligned) | Closest Alternative (Standard Panel) |
|---|---|---|
| Precision | Full gene sequencing (all exons + UTRs) with CNV calling; 99.9% analytical sensitivity | Targeted mutation hotspot analysis only; may miss novel or deep intronic variants |
| Methodology | NGS (Illumina NovaSeq X Plus) with Sanger confirmation of clinically significant variants | Sanger sequencing of limited exons or microarray |
| Turnaround Time | 3–4 weeks | 6–8 weeks or more |
Physician Insight & Safety Protocol
“As a clinical neurologist, I know that a positive COL6A2 result can be overwhelming. This test provides clarity, but it must be interpreted alongside a detailed neuromuscular examination and family history. I encourage all patients and families to engage with our genetic counsellor before and after testing. Early physiotherapy and respiratory monitoring can dramatically improve quality of life.”
— Dr. Prabhakar Reddy, Specialist Neurologist, DHA License: 61713011
Medication Warning
Do not discontinue or modify prescribed medications (e.g., corticosteroids, antiepileptics, or cardiac agents) without consulting your supervising physician. Genetic test results do not replace acute clinical management.
Exclusion Criteria & ER Red Flags
- Home collection is not performed for patients currently admitted to an ICU or requiring continuous ventilatory support.
- If the patient exhibits sudden respiratory distress, severe hypotonia with feeding difficulties, or loss of consciousness, seek emergency medical care immediately—do not wait for test results.
- This test is not a substitute for a clinical diagnosis; negative results do not rule out the condition if clinical suspicion remains high.
Patient FAQ & Clinical Guidance
1. How accurate is this COL6A2 NGS test for confirming Ullrich congenital muscular dystrophy?
Our NGS assay achieves 99.9% analytical sensitivity and specificity for single nucleotide variants and copy number variations across the COL6A2 gene, with every clinically significant variant confirmed by Sanger sequencing. تبلغ حساسية الاختبار 99.9% لطفرات جين COL6A2 مع تأكيد الطفرات الهامة بتقنية سانجر.
2. What sample is required and can it be collected at home?
A single blood sample (2–3 mL in EDTA tube) or one drop of blood on an FTA card is collected by a DHA-licensed phlebotomist during a home visit scheduled via WhatsApp, with cold-chain transport to our ISO-certified lab. عينة دم واحدة على بطاقة FTA تجمع منزلياً وتنقل مبردة للمختبر المعتمد.
3. Do I need genetic counselling before the test?
Yes, a mandatory pre-test genetic counselling session (included) constructs a detailed pedigree chart to assess inheritance patterns and ensures informed consent, aligning with UAE CDS Law 2026 for minor testing. جلسة استشارة وراثية إلزامية قبل الاختبار لرسم شجرة العائلة وضمان الامتثال لقوانين الإمارات.
UAE Regulatory Compliance
This laboratory operates under Federal Decree-Law No. 41 of 2024 (Art. 87) and the 2026 Clinical Diagnostic Services Law for Minors. All personal health data is processed and stored in compliance with the UAE Personal Data Protection Law (PDPL). Our facility holds DHA License 9834453 and ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).
The is intended for clinical purposes by Neurologists, Pediatricians, and Medical & PhD Researchers. It is not a direct-to-consumer product.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians