Test Price
2,800 AED✅ Home Collection Available
TYROBP Gene PLOSL (Nasu‑Hakola Disease) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين TYROBP لمرض ناسو‑هاكولا (خلل التنسج العظمي الشحمي الغشائي متعدد الكيسات مع اعتلال بيضاء الدماغ المصلب) بتقنية التسلسل الجيني من الجيل التالي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
الملخص التنفيذي
تحليل جيني متطور ومعتمد لتشخيص مرض ناسو‑هاكولا بدقة متناهية، مع خدمة سحب منزلي فائقة الجودة.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Laboratory Sequencing.
- Premium Logistics: Paid Hospital‑Grade Home Collection via ISO Certified Cold‑Chain Home Collection and VIP Mobile Phlebotomy (8 AM–11 PM).
- Clinical Guidance: Telephonic Post‑Test Clinical Guidance to support result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Primary Investigators & Clinical Intent
Neurologist · Clinical Geneticist · Medical Researcher – This test confirms a diagnosis of Nasu‑Hakola disease (PLOSL), identifies carrier status, and enables family risk stratification. It replaces symptom‑based guesswork with a definitive genetic answer.
Test Overview
The TYROBP Genetic Test evaluates the entire coding region of the TYROBP gene using Next‑Generation Sequencing, detecting pathogenic variants linked to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (Nasu‑Hakola disease). (هذا الاختبار الشامل يفحص الجين المسؤول عن المرض العصبي الوراثي بدقة فائقة). It provides results in 3‑4 weeks from blood, extracted DNA, or a single‑drop FTA card.
| Feature | Our Test (PLOSL NGS) | Closest Alternative (Panel or Single‑Gene Sanger) |
|---|---|---|
| Precision | 99.9% analytical sensitivity; detects SNVs, indels, CNVs | ≥99% but limited to targeted regions only |
| Methodology | NGS (Next‑Generation Sequencing) with orthogonal confirmation | Sanger sequencing or targeted panel, may miss large rearrangements |
| Speed | 3‑4 weeks, cold‑chain logistics | 4‑6 weeks typical |
Physician Insight & Safety Protocol
“As a Clinical Pathologist, I emphasize that a positive TYROBP variant must be interpreted within the full clinical picture of bone cysts, early‑onset dementia, and family history. A negative result does not exclude all genetic causes of leukoencephalopathy, and all findings must be discussed with your neurologist or genetic counsellor.”
— Dr. PRABHAKAR REDDY, DHA License: 61713011
Medication Warning: Do not discontinue prescribed medication without consulting your doctor. This test is not a substitute for ongoing neurological care.
Exclusion Criteria & Emergency Red Flags
- Inability to provide informed consent (use legal guardian pathway for minors per UAE CDS Law 2026).
- Active febrile illness or acute bone fracture at the time of sampling does not invalidate the test but should be documented.
- Suspected genetic condition requires pre‑test genetic counselling session (pedigree chart included).
- If you experience sudden confusion, seizure, or acute bone pain, seek emergency medical care immediately; do not wait for genetic results.
Frequently Asked Clinical Questions
What does the TYROBP gene test diagnose?
The TYROBP Genetic Test definitively diagnoses Nasu‑Hakola disease, a rare genetic disorder characterized by bone cysts and early‑onset sclerosing leukoencephalopathy. (يكشف الاختبار الطفرات المسببة لمرض ناسو‑هاكولا الوراثي). It provides a molecular answer for patients presenting with unexplained bone lesions or young‑onset dementia.
How is the sample collected, and is home service available?
A certified phlebotomist draws 3‑4 mL of whole blood in a special DNA tube, or a painless finger‑prick FTA card, all collected at your Dubai or Abu Dhabi home. (سحب عينة الدم منزلياً بدرجة حرارة مبرمجة). The sample is transported under ISO‑certified cold‑chain to our central laboratory.
What is the turnaround time, and will I get a clinical interpretation?
Results are finalised within 3‑4 weeks and include a comprehensive report explaining the significance of any variant found. (يقدم التقرير تفسيراً سريرياً مفصلاً باللغتين). A telephonic post‑ guidance session with a DHA‑licensed professional is included to discuss next steps.
Regulatory Compliance: This service is conducted under Federal Decree‑Law No. 41 of 2024 (Art. 87 – Patient Safety & Genetic Testing Consent) and UAE Child Digital Safety (CDS) Law 2026 for minors. Personal genetic data is protected under UAE PDPL. Facility License: 9834453. ISO 9001:2015 Certified (INT/EGQ/2509DA/3139). All methods follow 2026 DHA/MOHAP standard nomenclature.
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