Test Price
2,800 AED✅ Home Collection Available
PNPLA2 Gene Neutral Lipid Storage Disease with Myopathy (NLSDM) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
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: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection for Whole Blood, Extracted DNA, or Dried Blood Spot on FTA Card (Available daily from 8 AM to 11 PM).
- ✓Clinical Guidance: Complimentary Post‑Test Telephonic Consultation with a DHA‑Licensed Medical Genetics 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.
Test Overview & Methodology
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 Protocols
“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. Genetic counseling is essential to explain inheritance risks and coordinate family testing if needed.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ 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
1. 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.
2. 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 greater than 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.
3. 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. You will receive an encrypted report, and a post‑test teleconsultation can be scheduled within 48 hours of result release.
4. Who should consider this genetic test?
This test is indicated for individuals with clinical suspicion of NLSDM, including unexplained progressive myopathy, elevated creatine kinase, and cardiac involvement. It is also recommended for family members of a confirmed NLSDM patient to determine carrier status and guide reproductive planning. Adults with early‑onset lipid storage disorders or myopathic features without a clear diagnosis after standard workup may benefit from this targeted analysis.
UAE Regulatory & Data Privacy Adherence
Legal Framework & Data Protection Compliance
This service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All genetic data is stored securely within UAE sovereign borders and accessed only by authorized healthcare professionals under strict confidentiality protocols.
Clinical testing safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring informed consent, transparency, and full accountability throughout the diagnostic pathway.
Clinical & Logistical Metadata
| Test Name | PNPLA2 Gene Neutral Lipid Storage Disease with Myopathy (NLSDM) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | E75.5 (Other Lipid Storage Disorders) |
| LOINC Code | 94218-7 (PNPLA2 gene full mutation analysis) |
| DHA Facility License & Laboratory Address | Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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