Test Price
2,800 AED✅ Home Collection Available
POMK Gene (Muscle-Eye-Brain Disease) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين POMK (مرض العضلات-العيون-الدماغ) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
• ضمان الدقة: حساسية تشخيصية بنسبة 99.9% عبر معالجة معتمدة وفق معيار ISO 9001:2015.
• خدمات لوجستية متميزة: جمع عينات منزلية بمستوى مستشفيات عبر نظام سلسلة تبريد معتمد، وخدمة الفصد المتنقل لكبار الشخصيات.
• التوجيه السريري: استشارة هاتفية بعد الفحص لتفسير النتائج من قبل أطباء متخصصين.
• التأمين: التحقق المباشر من التغطية التأمينية عبر واتساب على الرقم +971 54 548 8731.
• Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing.
• Premium Logistics: Hospital-Grade Home Collection with ISO-Certified Cold Chain & VIP Mobile Phlebotomy.
• Clinical Guidance: Post-Test Telephonic Consultation to interpret results with a specialist.
• Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Overview
The POMK Gene (Muscle-Eye-Brain Disease) Genetic Test is a cutting-edge sequencing test that detects pathogenic variants in the POMK gene, associated with congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies. يوفر هذا التحليل الدقيق تشخيصًا جينيًا شاملاً لمرض العضلات والعين والدماغ المرتبط بطفرات جين POMK، مما يساعد في توجيه خطة العلاج والاستشارة الوراثية للأسر.
| Feature | Our Test (Exact POMK NGS) | Closest Alternative (Exome Sequencing) |
|---|---|---|
| Precision / Method | High-depth NGS (Next Generation Sequencing) targeting full POMK coding region and splice sites | Whole exome sequencing, lower per-gene coverage |
| Turnaround Time | 3 to 4 Weeks | 8–12 Weeks typical |
| Diagnostic Yield | >99% sensitivity for point mutations and small indels in POMK | ~85% sensitivity for the same gene often requires reflex single-gene testing |
| Genetic Counseling Integration | Mandatory pre-test counseling and pedigree analysis included | Optional, often not standard |
Physician Insight & Safety Protocol
Clinical Note from Dr. Prabhakar Reddy, DHA License 61713011: As a neurologist, I understand the deep anxiety families face when considering genetic testing for rare neuromuscular disorders. The POMK test result must be carefully correlated with clinical, imaging, and neuro-ophthalmological findings to avoid unnecessary alarm, and I strongly urge every patient to engage in genetic counseling before and after the test.
🚨 Medication Warning: Do not discontinue prescribed medication without consulting your doctor.
Adjustments to anti-epileptics, muscle relaxants, or any chronic therapy must be directed by a physician. Abrupt cessation can lead to serious clinical deterioration.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Recent blood transfusion (<2 weeks), active hematologic malignancy affecting DNA quality, or inability to provide informed consent without legal guardian.
- Red Flags for Emergency Care: Sudden severe headache, acute vision loss, new‐onset seizures, or loss of consciousness require immediate ER evaluation, not routine genetic testing.
- This test is not intended for emergency diagnosis; results do not replace urgent neurological assessment.
Patient FAQ & Clinical Guidance
Q1: What exactly does the POMK gene test detect?
Snippet: The POMK gene test detects mutations causing muscle-eye-brain disease, a severe congenital muscular dystrophy with brain and eye malformations.
More precisely, it sequences the entire coding region of the POMK gene to identify pathogenic variants responsible for dystroglycanopathy type A1, guiding accurate diagnosis, prognosis, and family planning. باختصار، يكشف تحليل جين POMK عن الطفرات المسببة لمرض العضلات والعين والدماغ، وهو حثل عضلي خلقي شديد يصاحبه تشوهات دماغية وعينية.
Q2: How should I prepare for the sample collection?
Snippet: No fasting is required; you must provide a detailed clinical history and consent to genetic counseling before the.
Our team will arrange a home visit with a certified phlebotomist. You simply need to be available and hydrated. A genetic counseling session is mandatory to draw a pedigree chart of affected family members, which enriches interpretation. لا حاجة للصيام؛ ولكن يُطلب تقديم تاريخ سريري مفصل والموافقة على جلسة استشارة وراثية لرسم شجرة العائلة.
Q3: How long does it take to get results, and who explains them?
Snippet: Results are ready in 3 to 4 weeks, and a specialist neurologist or genetic counselor will explain them via telephonic consultation.
After the laboratory issues the final report, a DHA-licensed physician will contact you to interpret the findings, discuss implications for treatment and family screening, and answer all your questions. تكون النتائج جاهزة خلال 3 إلى 4 أسابيع، ويقوم طبيب أعصاب أو مستشار وراثي معتمد من هيئة الصحة بدبي بشرحها لك عبر مكالمة هاتفية.
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