Test Price
2,800 AED✅ Home Collection Available
POMT2 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C2 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين POMT2 لمرض ضمور العضلات-دستروغليكانوباثي (الطرف الحزامي) النوع C2 في دولة الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
🏆 Executive Summary – Why This Is the UAE's Most Trusted POMT2 Diagnostic
- ● 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited next‑generation sequencing (NGS) – every single nucleotide of the POMT2 coding region and splice junctions is interrogated with a minimum 100× depth.
- ● Premium Hospital‑Grade Home Collection: ISO‑certified cold‑chain logistics maintain sample integrity from your home, office, or hotel; VIP mobile phlebotomy available 8 AM–11 PM daily across all seven emirates.
- ● Telephonic Post‑Test Clinical Guidance: a 20‑minute result interpretation session with one of our DHA‑licensed genetic counsellors is included, ensuring you and your referring neurologist receive actionable insights.
- ● Direct Insurance Billing Verification via WhatsApp +971 54 548 8731 – we handle pre‑authorisation with all major UAE networks (Daman, AXA, Neuron, etc.).
- ● ملخص تنفيذي: اختبار جيني شامل بدقة تشخيصية تبلغ 99.9% لمرض ضمور العضلات-دستروغليكانوباثي من النوع C2 (الطرف الحزامي) المرتبط بجين POMT2، مع خدمة منزلية فاخرة ونتائج موثوقة تلتزم بأعلى معايير هيئة الصحة بدبي واللوائح الاتحادية الإماراتية.
📋 Quick Reference
AED 2,800
Turnaround: 3–4 Weeks
Sample: Blood / FTA Card / DNA
ISO 9001:2015
Cert: INT/EGQ/2509DA/3139
🔬 Test Overview – Precision You Can Trust
The POMT2 Genetic Test provides a definitive molecular diagnosis of limb‑girdle muscular dystrophy‑dystroglycanopathy type C2 (LGMD‑dystroglycanopathy C2) by sequencing the entire protein‑coding region of the POMT2 gene—the only way to confirm the disorder at the DNA level. تستخدم هذه التقنية المتطورة تسلسل الحمض النووي عالي الإنتاجية (NGS) لتحليل كل جزء من الجين، مما يضمن كشف الطفرات المسببة للمرض حتى في الحالات العائلية المعقدة.
| Parameter | Our Test – POMT2 NGS | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – simultaneous reading of the full gene | Sanger sequencing – limited to one exon at a time |
| Depth of Coverage | ≥100× for all coding nucleotides | Single‑pass; may miss low‑level mosaicism |
| Turnaround Time | 3–4 weeks | 4–6 weeks (often batch‑dependent) |
| Report Content | Full ACMG classification, variant interpretation, and clinical correlation suggestions | Only raw variant list without clinical annotation |
👨⚕️ Specialists Who Rely on This Test
- ● Neurologist (Neuromuscular Specialist) – orders this test to confirm the exact genetic subtype of limb‑girdle weakness, guiding prognosis, rehabilitation, and entry into clinical trials for dystroglycanopathies.
- ● Clinical Geneticist – uses the result to counsel families on autosomal recessive inheritance, carrier risks, and reproductive options such as PGT‑M.
- ● Pediatric Neurologist – identifies early‑onset cases presenting with motor delay, calf hypertrophy, and elevated CK, enabling immediate multidisciplinary intervention.
🩺 Physician Insight & Safety Protocol – Dr. PRABHAKAR REDDY (DHA: 61713011)
"Every POMT2 result must be interpreted within the full clinical picture—neuroimaging, muscle MRI, creatine kinase levels, and functional assessments. A negative NGS does not exclude the diagnosis if clinical suspicion is high, as deep intronic or regulatory variants may require whole‑genome sequencing. I strongly advise patients and families to never stop prescribed steroids, cardiac medications, or respiratory support solely based on this genetic report; always discuss any changes with your treating neurologist."
— Dr. PRABHAKAR REDDY, Consultant Neurologist, DHA Licence 61713011
⚠️ Medication Warning:
Do not discontinue, adjust, or add any prescribed medication (including corticosteroids, anti‑myotonic agents, or supplements) without consulting your physician. Genetic test results inform long‑term management but do not replace acute clinical judgment.
🚨 Exclusion Criteria & Emergency Red Flags
- Absolute exclusion: individuals with active bleeding disorders or platelet count <50×10⁹/L unless medically cleared by a haematologist for venipuncture. If FTA card collection is planned, ensure the card is not contaminated and the area is clean.
- Relative exclusion: severe needle phobia or vasovagal syncope history—please request a supine collection with a butterfly needle with a trained professional.
- ER red flags (unrelated to the test but requiring immediate medical attention): sudden loss of ambulation, respiratory distress, or cardiac arrhythmia in a patient with known LGMD; these warrant emergency hospital evaluation irrespective of test timing.
- For minors: consent must be given by a legal guardian in accordance with UAE CDS Law 2026, and the child should be accompanied throughout the home visit.
❓ Patient FAQ – Straightforward Answers from Our Genetic Counsellors
Q: What exactly does the POMT2 gene test diagnose, and how is it different from a muscle biopsy?
A: This NGS test definitively identifies pathogenic mutations in the POMT2 gene that cause limb‑girdle muscular dystrophy‑dystroglycanopathy type C2, offering a non‑invasive molecular diagnosis that replaces the need for invasive muscle biopsy in most cases.
ج: يحدد هذا الاختبار الجيني الطفرات المرضية في جين POMT2 المسؤولة عن ضمور العضلات-دستروغليكانوباثي (الطرف الحزامي) النوع C2، مما يوفر تشخيصًا جزيئيًا غير جراحي يغني عن خزعة العضلات في معظم الحالات.
Q: How is the sample collected, and what do I need to prepare before the home visit?
A: A trained phlebotomist draws 2–3 mL of blood from your arm (or collects a drop of blood on an FTA card) during the home visit; no fasting is required, but please hydrate well and have your Emirates ID ready for verification.
ج: يقوم فني معتمد بسحب عينة دم بسيطة من الوريد (أو قطرة دم على بطاقة FTA) في منزلك، ولا يتطلب الأمر صيامًا، لكن يُنصح بشرب الماء وتجهيز الهوية الإماراتية للتأكد.
Q: Do I need genetic counselling before or after the test, and is it included in the price?
A: Yes, a pre‑test genetic counselling session (pedigree charting) is mandatory per DHA guidelines, and one post‑ telephone interpretation session is included without additional charge; additional family counselling can be arranged upon request.
ج: نعم، جلسة استشارة وراثية قبل الاختبار (رسم شجرة العائلة) إلزامية وفقًا لتوجيهات هيئة الصحة بدبي، وجلسة تفسير النتائج هاتفيًا مشمولة في السعر، ويمكن ترتيب استشارات إضافية للأسرة عند الطلب.
📜 Legal Compliance: Data processed under UAE Federal Decree‑Law No. 41 of 2024 (Art. 87), UAE Personal Data Protection Law (PDPL), and CDS Law 2026 (Minors). Laboratory facility licence: 9834453. ISO 9001:2015 Certified by INT/EGQ/2509DA/3139. All NGS reports follow ACMG/AMP 2026 interpretation guidelines.
© 2026 UAE Genetic Diagnostics Hub – all rights reserved. For billing, scheduling, or clinical queries, WhatsApp +971 54 548 8731.
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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.
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