Test Price
2,800 AED✅ Home Collection Available
TREM2 Gene Sequencing for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (Nasu-Hakola Disease) in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2022 Accredited Next-Generation Sequencing (NGS) platform ensuring comprehensive coverage of coding regions and splice sites.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Sample stability is maintained for up to 72 hours post-collection via certified medical courier.
Clinical Guidance: Telephonic Post-Test Clinical Guidance provided by a DHA-licensed Consultant Medical Geneticist for comprehensive result interpretation and family cascade screening recommendations.
Insurance & Billing: Direct Billing Verification and Pre-Authorization available via WhatsApp +971 54 548 8731 for all major UAE health insurance networks.
Test Overview & Methodology
The TREM2 Gene Sequencing test identifies pathogenic variants responsible for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), commonly referred to as Nasu-Hakola disease. This rare autosomal-recessive disorder manifests as a combination of progressive presenile dementia, neuropsychiatric symptoms, and painful bone cysts. Our advanced NGS-based analysis enables definitive molecular confirmation, facilitates accurate genetic counselling, and effectively distinguishes PLOSL from other neurodegenerative conditions such as Alzheimer disease, frontotemporal dementia, or primary skeletal dysplasias.
| Feature | Our TREM2 NGS Test | Alternate (Single-Gene Sanger) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) covering the full coding region, exon-intron boundaries, and untranslated regions (UTRs) with >99.5% base-pair resolution. | Sanger sequencing of targeted exons, limited to specific hotspot regions. |
| Variant Detection Spectrum | Single nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variants (CNVs) detected via advanced bioinformatics pipelines. | Primarily point mutations; may fail to detect large deletions, duplications, or structural rearrangements. |
| Turnaround Time | 21–28 calendar days (3–4 weeks), with expedited reporting available within 14 days for critical or urgent clinical cases. | 14–21 days but with significantly narrower genomic coverage. |
Physician Insight & Safety Protocols
Clinical Insight from Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403: “A biallelic pathogenic mutation in the TREM2 gene provides a definitive molecular diagnosis of Nasu-Hakola disease. However, this result must be correlated with neurological examination, neuroimaging, and skeletal surveys. Pre-test genetic counselling is mandatory to address implications for asymptomatic family members. This test is a powerful diagnostic adjunct, not a standalone screening instrument, and should always be interpreted within the complete clinical context.”
⚠️ Safety, Exclusion & Medication Advisory
- Exclusion Criteria: Patients presenting with acute neurological deterioration, unexplained altered mental status, or active infections requiring immediate empiric therapy should not delay emergency medical intervention for genetic testing. This test is intended for stable patients undergoing elective diagnostic workup.
- Emergency Red Flags: Sudden onset of severe headache, recurrent seizures, loss of consciousness, or clinical signs suggestive of increased intracranial pressure warrant immediate hospital-based emergency evaluation. Do not await genetic results before seeking urgent care.
- Medication Stability: Do not discontinue, adjust, or initiate any prescribed therapy—including antiepileptics, antipsychotics, or psychotropic medications—based solely on genetic test results. All medication changes must be supervised by the treating physician.
- Paediatric & Adolescent Testing: In full compliance with UAE Federal Law, genetic testing on minors requires prior written guardian consent and a formal genetic counselling session documented in the medical record.
Patient FAQ & Clinical Guidance
1. What specific condition does the TREM2 genetic test identify?
Answer: This test detects inherited mutations in the TREM2 gene that cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. It is a rare autosomal-recessive disorder characterized by progressive neurological decline and multiple bone cysts.
2. Who should consider undergoing TREM2 gene sequencing?
Answer: This test is appropriate for individuals presenting with early-onset dementia, neuropsychiatric symptoms, or recurrent pathological bone fractures with suggestive radiological findings. It is also offered to asymptomatic family members of an index patient for cascade screening after comprehensive genetic counselling.
3. How is the sample collected and what is the turnaround time?
Answer: A standard peripheral whole blood sample (3–5 mL in a lavender-top EDTA tube) is required. Our VIP Mobile Phlebotomy service can collect the sample at your home or office between 8 AM and 11 PM daily. Results are typically available within 3–4 weeks, with expedited reporting options for urgent diagnostic dilemmas.
4. Does health insurance cover the cost of this genetic test in the UAE?
Answer: Coverage varies by insurance plan and requires pre-authorization. Our billing team provides direct verification and assists with documentation for DHA-approved and ICD-10-coded claims. Please contact us via WhatsApp at +971 54 548 8731 to confirm your specific policy benefits.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework: All genetic testing and data handling procedures strictly follow 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. Patient consent, clinical safety, and medical liability are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Our laboratory operates under the direct supervision of the Dubai Health Authority (DHA) and maintains rigorous standards for genomic data storage, access control, and secure disposal. Genetic information is never shared with third parties without explicit, written patient consent as mandated by UAE federal legislation.
Clinical & Logistical Metadata
| Test Name | TREM2 Gene Sequencing (Nasu-Hakola Disease / PLOSL) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks (Expedited Reporting Available for Urgent Cases) |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA Lavender-Top Tube) or Extracted gDNA |
| Methodology Used | Next-Generation Sequencing (NGS) – Full coding region & splice site analysis, >99.5% coverage |
| ICD-10-CM Code | E75.2 (Sphingolipidosis), G31.8 (Leukoencephalopathy) |
| LOINC Code | 81424-7 (TREM2 gene targeted mutation analysis) |
| DHA Facility License & Address | Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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