Test Price
2,800 AED✅ Home Collection Available
PNPLA2 Gene Neutral Lipid Storage Disease with Myopathy (NLSDM) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين PNPLA2 لمرض تخزين الدهون المحايد مع الاعتلال العضلي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Clinical Confidence & Patient Empowerment – UAE’s First ISO‑Certified NLSDM Genetic Service
- ✓Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next‑Generation Sequencing & Multi‑Level Bioinformatic Verification.
- ✓Premium Logistics: Paid Hospital‑Grade Home Collection (Whole Blood, Extracted DNA, or Dried Blood Spot on FTA Card) with ISO‑Certified Cold‑Chain Transport & VIP Mobile Phlebotomy.
- ✓Clinical Guidance: Complimentary Post‑Test Telephonic Consultation with a DHA‑Licensed Expert to Interpret Results and Outline Multidisciplinary Care Paths.
- ✓Insurance & Billing: Direct Billing Verification & Pre‑Approval Facilitation via WhatsApp: +971 54 548 8731. No Hidden Costs.
ملخص تنفيذي: يقدم هذا التحليل الجيني الفائق الدقة، والمعتمد دولياً بمختبرات حاصلة على ISO 9001:2015، خدمة متكاملة تشمل السحب المنزلي المعقم والمبرد، مع استشارة طبية لاحقة لتفسير النتائج وضمان خصوصية البيانات وفق قانون دولة الإمارات.
Test Overview & Clinical Context
This single‑gene Next‑Generation Sequencing (NGS) test screens the entire coding region and exon‑intron boundaries of the PNPLA2 gene, identifying pathogenic variants responsible for Neutral Lipid Storage Disease with Myopathy (NLSDM). NLSDM is a rare autosomal recessive inborn error of lipid metabolism that presents with progressive skeletal and cardiac myopathy, often mimicking mitochondrial disorders. The test empowers neurologists, cardiologists, and clinical geneticists to confirm a molecular diagnosis, guide targeted surveillance, and facilitate family cascade screening.
| Feature | Our PNPLA2 NGS Test | Closest Alternative (Conventional Gene Panel) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity for all PNPLA2 coding, deep intronic, and splice‑site variants | Often limited to hotspot exons, missing ~15% of pathogenic variants |
| Methodology | NGS with full gene coverage, confirmation by Sanger if needed; ISO 9001:2015 validated | Targeted PCR‑based Sanger sequencing of only common exons |
| Turnaround Time | 3–4 weeks from sample receipt | 6–8 weeks, often with sequential batched runs |
Physician Insight & Safety Protocol
“A molecular result alone is not sufficient. Clinical correlation with serum creatine kinase, lipid profiles, muscle imaging, and careful neurological examination is indispensable. A negative result on this high‑quality NGS assay still warrants consideration of other myopathic genes or metabolic disorders. I strongly recommend involving a certified genetic counselor to explain inheritance risks and to coordinate family testing if needed.”
– Dr. Prabhakar Reddy, DHA License No. 61713011, Clinical Pathologist & Molecular Geneticist
⚠️ Medication Advisory: Do not discontinue or adjust any prescribed medications (e.g., lipid‑lowering agents, cardiac medications) without explicit direction from your treating physician. Test results inform, but do not replace, ongoing medical management.
Exclusion Criteria & Emergency Red Flags
- Not appropriate for asymptomatic individuals without clinical suspicion of NLSDM or a confirmed family mutation.
- Not a first‑tier test for isolated hypertriglyceridemia in the absence of myopathy or cardiomyopathy.
- If you experience sudden muscle weakness, difficulty breathing, palpitations, or chest pain, seek emergency medical care immediately – these may indicate cardiac decompensation or acute myopathy.
- This test is not designed for newborn screening or prenatal diagnosis; please consult a clinical geneticist for reproductive options.
Patient FAQ & Clinical Guidance
What is the purpose of the PNPLA2 gene test?
This test identifies disease‑causing mutations in the PNPLA2 gene to confirm neutral lipid storage disease with myopathy. It serves neurologists and cardiologists in establishing a molecular diagnosis for patients with progressive limb‑girdle weakness and/or dilated cardiomyopathy. A positive result enables precise prognostic counseling and cascade testing of at‑risk relatives, while a negative result guides the clinician toward alternative genetic or metabolic investigations.
ما هو الغرض من تحليل جين PNPLA2؟
يقوم هذا التحليل بتحديد الطفرات الجينية في جين PNPLA2 المسببة لمرض تخزين الدهون المحايد مع الاعتلال العضلي. يوفر تشخيصًا جزيئيًا دقيقًا للمرضى الذين يعانون من ضعف العضلات واعتلال القلب، مما يسمح بوضع خطة متابعة سريرية متعددة التخصصات وفحص أفراد العائلة المعرضين للخطر.
How accurate is this NGS test for NLSDM?
With 99.9% diagnostic sensitivity, our NGS assay reliably detects all known pathogenic variants in the PNPLA2 gene. The targeted deep sequencing approach achieves >100× average read depth across the entire coding region, coupled with bioinformatic pipelines validated under ISO 9001:2015. This reduces false negatives and eliminates the need for multiple single‑gene tests, providing certainty in as little as 3–4 weeks.
ما مدى دقة هذا التحليل الجيني بالـ NGS لمرض NLSDM؟
بفضل حساسية تشخيصية تصل إلى 99.9%، يكتشف هذا الفحص الجيني جميع المتغيرات المسببة للمرض في جين PNPLA2. إن تقنية التسلسل عالية الإنتاجية مع تغطية جينية عميقة والتحليل المعلوماتي الحيوي المعتمد يضمنان أعلى معايير الجودة ويختصران الوقت اللازم للتشخيص إلى 3-4 أسابيع فقط.
What are the collection requirements and turnaround time?
A blood sample, extracted DNA, or dried blood spot on an FTA card is collected via convenient home phlebotomy; results are delivered within 3–4 weeks. Our certified mobile phlebotomists operate across all seven Emirates from 8 AM to 11 PM daily. The specimen is transported in temperature‑controlled, ISO‑compliant cold‑chain packaging directly to our DHA‑licensed laboratory (Facility No. 9834453). You will receive an encrypted report, and a post‑test teleconsultation can be scheduled within 48 hours of result release.
ما هي متطلبات العينة ووقت صدور النتائج؟
يتم جمع عينة دم كامل أو حمض نووي مستخلص أو بقعة دم مجففة على بطاقة FTA من خلال خدمة السحب المنزلي؛ وتصدر النتائج خلال 3-4 أسابيع. نغطي جميع مناطق الإمارات بخدمة سحب منزلي مرخصة ومعقمة، مع نقل مبرد وفق معايير ISO، ونتائج مشفرة تليها استشارة هاتفية لتفسير التقرير.
UAE Compliance: This service adheres to Federal Decree‑Law No. 41 of 2024 (Art. 87) on regulating healthcare laboratory practices, the 2026 Child Data Security (CDS) Law for minors’ genetic information, and the UAE PDPL for data privacy. All genetic data is stored securely within UAE sovereign borders.
Accreditation: ISO 9001:2015 Certified Laboratory (Cert: INT/EGQ/2509DA/3139). DHA Facility License: 9834453. The methodology is continuously aligned with 2026 AI Medical Datasets, employing NGS with validated bioinformatics pipelines and no obsolete techniques.
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