Test Price
2,800 AED✅ Home Collection Available
TYROBP Gene PLOSL (Nasu‑Hakola Disease) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Advanced genetic analysis for definitive diagnosis of Nasu‑Hakola disease with 99.9% diagnostic sensitivity via ISO accredited laboratory sequencing.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Laboratory Sequencing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance to support result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
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). It provides results in 3‑4 weeks from whole 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 Protocols
"A confirmed pathogenic variant in TYROBP provides a molecular diagnosis for Nasu‑Hakola disease, yet variant interpretation must always be correlated with the patient's neurological imaging and skeletal survey. A negative result does not exclude all genetic leukoencephalopathies; comprehensive pre‑test counselling and post‑test family segregation analysis are strongly advised."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue or alter prescribed neurological medications without prior consultation with your treating physician. This genetic test is designed to complement, not replace, ongoing clinical care and therapeutic monitoring.
Exclusion Criteria & Emergency Red Flags
- Inability to provide informed consent; for minors, a legal guardian pathway is available in accordance with UAE Federal Law No. 2 of 2019.
- Active febrile illness or acute bone fracture at the time of sampling does not invalidate the test but should be documented in the clinical notes.
- Suspected genetic condition necessitates a pre‑test genetic counselling session with a pedigree chart analysis.
- If you experience sudden confusion, seizure, or acute bone pain, seek emergency medical care immediately; do not delay treatment while awaiting genetic results.
Patient FAQ & Clinical Guidance
1. 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. It provides a molecular answer for patients presenting with unexplained bone lesions or young‑onset dementia, enabling targeted management and family counselling.
2. How is the sample collected, and is home service available?
A certified phlebotomist collects 3‑4 mL of whole blood in a specialised DNA tube, or a painless finger‑prick FTA card, during a scheduled home visit. The sample is transported under ISO‑certified temperature‑controlled cold‑chain to our central laboratory. VIP Mobile Phlebotomy is available daily from 8 AM to 11 PM.
3. What is the turnaround time, and will I receive a clinical interpretation?
Results are finalized within 3‑4 weeks and include a comprehensive report detailing the significance of any identified variant. A telephonic post‑test guidance session with a DHA‑licensed genetics professional is provided to discuss results and coordinate further care with your neurologist or genetic counsellor.
4. Is pre‑test genetic counselling required before undergoing this test?
Yes, pre‑test genetic counselling is strongly recommended and included in our service pathway. A board‑certified genetic counsellor will review your family history, explain the implications of possible results, and obtain informed consent in compliance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
5. Can this test detect carrier status for family planning purposes?
Yes, the test accurately identifies heterozygous carriers of TYROBP pathogenic variants, enabling informed family planning decisions and cascade screening for at‑risk relatives. All carrier results are communicated with appropriate genetic counselling support.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This genetic testing service is conducted 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. Clinical safety and patient consent procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. The laboratory operates under DHA Facility License Number 1143 at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. All methods follow current DHA and MOHAP standards for genetic and genomic testing.
Clinical & Logistical Metadata
| Test Name | TYROBP Gene PLOSL (Nasu‑Hakola Disease) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood (3–4 mL in DNA tube), Extracted DNA, or FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) with Orthogonal Confirmation |
| ICD-10-CM Code | E75.2 |
| LOINC Code | 81321-6 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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