TREM2 Gene Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy NGS Genetic DNA Test
Understanding TREM2 Gene PLOSL Genetic Testing
The TREM2 Gene Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This comprehensive test utilizes advanced Next-Generation Sequencing technology to analyze the TREM2 gene, which plays a critical role in immune system regulation within the central nervous system. PLOSL is an extremely rare autosomal recessive disorder that progressively affects both skeletal and neurological systems, making early and accurate diagnosis essential for proper management and family planning.
What This Test Detects and Measures
Our specialized NGS genetic test specifically targets mutations in the TREM2 gene located on chromosome 6p21. This gene encodes the triggering receptor expressed on myeloid cells 2, which is crucial for microglial function in the brain. The test identifies:
- Pathogenic variants in the TREM2 gene associated with PLOSL
- Single nucleotide polymorphisms (SNPs) affecting protein function
- Insertions, deletions, and frameshift mutations
- Copy number variations impacting gene expression
- Compound heterozygous mutations in affected individuals
Clinical Significance of TREM2 Mutations
Mutations in the TREM2 gene disrupt normal microglial activity, leading to impaired phagocytosis and abnormal immune responses in the brain. This results in the characteristic features of PLOSL, including progressive neurological deterioration and distinctive bone abnormalities.
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Progressive dementia beginning in early adulthood (typically 20s-30s)
- Recurrent bone fractures or pain due to cystic bone lesions
- Family history of PLOSL or similar neurological disorders
- Unexplained neurological symptoms including cognitive decline
- Presence of lipomembranous polycystic osteodysplasia on imaging
- Early-onset frontal lobe dementia symptoms
- Progressive motor dysfunction and spasticity
Early Warning Signs and Symptoms
Patients may experience initial symptoms such as personality changes, memory impairment, and bone pain years before full manifestation of the disease. Early testing can provide crucial diagnostic clarity.
Benefits of TREM2 PLOSL Genetic Testing
Undergoing this comprehensive genetic analysis offers numerous advantages:
- Accurate Diagnosis: Provides definitive confirmation of PLOSL, distinguishing it from other neurological conditions
- Early Intervention: Enables proactive management strategies before severe symptoms develop
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Treatment Guidance: Helps neurologists develop targeted care plans based on genetic findings
- Prognostic Information: Provides insights into disease progression and expected clinical course
- Research Contribution: Contributes to understanding rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
Positive Result Interpretation
A positive result indicates the presence of pathogenic TREM2 mutations associated with PLOSL. This confirmation enables:
- Implementation of appropriate neurological care and monitoring
- Family member testing and genetic counseling
- Development of personalized management strategies
- Connection with specialized neurological care teams
Negative Result Interpretation
A negative result suggests that TREM2 mutations were not detected, though other genetic or non-genetic causes should still be considered. Our genetic counselors provide guidance on next steps and alternative testing options if needed.
Variant of Uncertain Significance
In some cases, genetic variants of uncertain significance may be identified. Our team provides comprehensive counseling to explain these findings and recommend appropriate follow-up.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | TREM2 Gene Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing accuracy, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members with similar symptoms
- Neurological evaluation findings
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing nationwide.
Take Control of Your Neurological Health
Early genetic testing for TREM2-related disorders can provide life-changing insights and enable proactive management of this complex condition. Our team of genetic specialists and neurologists are committed to providing comprehensive care and support throughout your testing journey.
Ready to schedule your TREM2 PLOSL Genetic Test? Contact our genetic counseling team today at +1(267) 388-9828 to discuss your testing options, schedule an appointment, or get answers to your questions. Take the first step toward understanding your genetic health and planning for the future.
Don’t wait to get the answers you need. Book your comprehensive neurological genetic testing today and gain valuable insights into your health and family’s future.
