Test Price
2,800 AED✅ Home Collection Available
POMT2 Gene Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل الجين POMT2 للضمور العضلي الناجم عن خلل الديستروغليكان من النوع ب2 في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
This comprehensive POMT2 Genetic Test provides 99.9% diagnostic sensitivity for detecting pathogenic variants associated with congenital muscular dystrophy-dystroglycanopathy type B2 (with mental retardation). Certified under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and adhering to UAE Federal Decree-Law No. 41 of 2024 Art. 87, the service includes hospital-grade home blood collection, cold-chain transport, and expert post-test telephonic guidance. Direct insurance billing verification via WhatsApp +971 54 548 8731.
الملخص التنفيذي: يقدم هذا الاختبار الجيني الشامل لتسلسل الجين POMT2 باستخدام تقنية التسلسل من الجيل التالي (NGS) حساسية تشخيصية تصل إلى 99.9% للكشف عن الطفرات المسببة للضمور العضلي الخلقي المرتبط بخلل الديستروغليكان من النوع ب2 (مع تخلف عقلي). معتمد وفق معايير الآيزو 9001:2015 وملتزم بأحكام القانون الاتحادي رقم 41 لسنة 2024 بشأن البيانات الوراثية البشرية. يشمل الخدمة سحب الدم المنزلي المبرد ونقل العينات بشكل آمن، بالإضافة إلى استشارات ما بعد الفحص عبر الهاتف. للتحقق من تغطية التأمين: واتساب +971 54 548 8731.
Test Overview
The POMT2 gene sequencing test detects mutations causing muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B2, a severe autosomal recessive disorder. Our next-generation sequencing (NGS) assay delivers full gene coverage with a turnaround of 3–4 weeks, outperforming standard single-gene Sanger sequencing in speed and comprehensiveness.
| Feature | Our POMT2 NGS Test | Conventional Sanger Sequencing |
|---|---|---|
| Methodology | NGS (Next Generation Sequencing) – High-throughput, full exon coverage | Sanger sequencing – single exon analysis, limited scope |
| Diagnostic Sensitivity | 99.9% (analytical sensitivity for SNVs & indels) | ~95% (may miss deep intronic variants) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Sample Type | Whole blood, extracted DNA, or FTA card | Whole blood or DNA |
| ISO Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | May vary |
Regulatory & Medical Coding Compliance
- ICD-10-CM Codes (2026): G71.0 (Muscular dystrophy), Z15.89 (Genetic susceptibility), F79 (Unspecified intellectual disability)
- LOINC: 85915-8 (POMT2 gene full sequence analysis)
- UAE Legal References: Federal Decree-Law No. 41 of 2024 (Human Genetic Data), Art. 87 – genetic testing for minors requires informed parental consent and pre-test genetic counseling. CDS Law 2026 (Child Rights) ensures protection of minors. UAE PDPL guarantees data privacy.
- ISO Accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)
Physician Insight & Safety Protocol
“POMT2 gene variants are implicated in a spectrum of congenital muscular dystrophies with brain involvement. A positive test result requires meticulous clinical correlation, including a thorough neurological and developmental assessment. Genetic counseling is mandatory to discuss implications for the patient and family. This test is a crucial step, but diagnosis must be integrated with clinical phenotype.”
— Dr. PRABHAKAR REDDY, DHA License: 61713011
Important: Do not discontinue prescribed medication without consulting your doctor. This test is for genetic diagnosis and does not replace clinical management.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Active coagulopathy or inability to provide informed consent for phlebotomy.
- Exclusion: Lack of legal guardian consent for minors (as per UAE genetic testing law).
- Red Flags: If you or your child experiences sudden muscle weakness, respiratory distress, seizures, or feeding difficulties, seek immediate emergency care. Do not delay.
- Home collection is performed by certified phlebotomists; contraindications will be assessed prior to sampling.
Patient FAQ & Clinical Guidance
1. What is the diagnostic accuracy of this POMT2 NGS test?
The test delivers 99.9% analytical sensitivity and specificity for detecting single nucleotide variants and small indels across all coding exons of the POMT2 gene, validated by rigorous in-house quality metrics.
يوفر الاختبار حساسية تحليلية ونوعية تبلغ 99.9% لاكتشاف الطفرات النقطية والإدراج/الحذف الصغيرة عبر جميع الإكسونات المشفرة لجين POMT2، معتمداً على مقاييس جودة داخلية صارمة.
2. How is the sample collected and what are the logistics?
A DHA-certified phlebotomist visits your home between 8 AM and 11 PM for a painless blood draw, which is immediately stored in an ISO-certified cold-chain transport system directly to our CAP-accredited laboratory.
يقوم أخصائي سحب دم معتمد من هيئة الصحة بدبي بزيارة منزلية بين الساعة 8 صباحاً و11 مساءً لإجراء سحب دم غير مؤلم، يُحفظ فوراً في سلسلة تبريد معتمدة وفق الأيزو ويُنقل مباشرة إلى مختبرنا الحائز على اعتماد CAP.
3. What should I do if the test result is positive?
A positive result indicates a likely pathogenic variant; however, clinical correlation by a neurologist or clinical geneticist is mandatory to confirm the diagnosis and discuss management, family screening, and prenatal options.
النتيجة الإيجابية تشير إلى وجود طفرة محتملة ممرضة، لكن الربط السريري مع أخصائي أعصاب أو اختصاصي وراثة سريرية ضروري لتأكيد التشخيص ومناقشة خيارات العلاج والفحص العائلي وفحص ما قبل الولادة.
Pre- Genetic Counseling Requirement
Prior to testing, a genetic counseling session is mandatory (per UAE law) to draw a detailed pedigree chart of family members affected by POMT2-related muscular dystrophy-dystroglycanopathy. This ensures proper interpretation and informed consent. No dietary restrictions or medication adjustments are necessary before sample collection.
📞 Support & Insurance: Direct billing verification via WhatsApp at +971 54 548 8731. Home collection available 8 AM–11 PM, 7 days a week. DHA facility license: 9834453.
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