Overview

Minagene’s Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel is a specialized genetic test designed to provide comprehensive genetic information for precise diagnosis and management of HLH. This panel utilizes advanced next-generation sequencing (NGS) technology to analyze a panel of genes associated with HLH, enabling clinicians to identify causative genetic mutations and guide personalized treatment strategies for improved patient outcomes.

Methodology

The HLH Gene Panel utilizes targeted NGS technology to sequence selected genes known to be associated with HLH. The panel covers a wide range of genes involved in immune dysregulation, cytokine signaling, and cytotoxicity pathways. By analyzing these genes, the panel provides a comprehensive genetic profile that helps identify specific genetic mutations contributing to HLH, guiding accurate diagnosis and personalized management.

Key Highlights of the Test:

-Comprehensive Genetic Evaluation: The HLH Gene Panel offers a comprehensive evaluation of genetic mutations associated with HLH. It analyzes key genes involved in immune dysregulation and cytotoxicity pathways, including PRF1, UNC13D, STXBP2, and others. This comprehensive approach enables the identification of potential causative genetic mutations, aiding in accurate HLH diagnosis.

-Precise Diagnosis: By identifying specific genetic mutations, the panel facilitates precise diagnosis and differentiation between different subtypes of HLH. It helps distinguish between primary and secondary HLH, enabling clinicians to provide appropriate management strategies and prognostic information.

-Personalized Treatment Selection: The panel’s genetic insights assist in personalized treatment selection for HLH patients. By identifying specific genetic mutations, the panel helps guide treatment decisions, including the use of immunomodulatory therapies, hematopoietic stem cell transplantation (HSCT), or targeted therapies based on the underlying genetic abnormalities.

-Prognostic Assessment: The HLH Gene Panel provides valuable prognostic information by identifying genetic mutations associated with disease severity and clinical outcomes. This information aids in risk stratification and treatment planning, allowing clinicians to optimize therapeutic interventions and improve patient prognosis.

-Genetic Counseling and Family Screening: The genetic information obtained from the panel can be used for genetic counseling and family screening. It helps identify family members who may carry pathogenic mutations associated with HLH, enabling early detection and intervention in at-risk individuals.

-Diagnostic Evaluation: The HLH Gene Panel is recommended for patients suspected of having HLH, particularly in cases where the clinical presentation is consistent with immune dysregulation and cytokine storm. The panel aids in precise diagnosis and differentiation between primary and secondary HLH.

-Personalized Treatment Planning: The test is valuable for personalized treatment planning in HLH patients. By identifying specific genetic mutations, the panel helps guide treatment decisions, including the selection of appropriate immunomodulatory therapies, HSCT, or targeted therapies based on the underlying genetic abnormalities.

-Prognostic Assessment: The panel’s genetic insights assist in prognostic assessment by identifying genetic mutations associated with disease severity and clinical outcomes. This information aids in risk stratification and treatment planning, enabling clinicians to optimize therapeutic interventions and improve patient prognosis.

-Genetic Counseling and Family Screening: The panel’s results can be used for genetic counseling and family screening. It helps identify family members who may carry pathogenic mutations associated with HLH, facilitating early detection, and intervention in at-risk individuals.

-Research and Clinical Trials: The HLH Gene Panel can be utilized in research studies and clinical trials focusing on HLH. The panel’s comprehensive genetic profiling may contribute to a better understanding of the genetic basis of HLH and help identify potential therapeutic targets.