- Hemophagocytic Lymphohistiocytosis (HLH) is a condition where the organism produces too many activated immune cells (macrophages and lymphocytes), creating a state of uncontrolled hyperinflammatory response. Symptoms usually develop within the first months or years of life. Primary HLH are linked to mutations impairing lymphocyte cytotoxicity whereas secondary HLH are triggered by infection, autoimmune disease or neoplasia. Inherited forms of HLH normally involve genes that provide instructions for proteins that help destroy or turn off activated immune cells when they are no longer needed. They are transmitted in an autosomal recessive manner. Early identification of this disease is crucial as it has high rates of morbidity and mortality if under-recognized.
- The Igenomix Hemophagocytic Lymphohistiocytosis Precision Panel can be used for an accurate and directed diagnosis as well as differential diagnosis of early recurrent infections ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Severe Hemophagocytic Lymphohistiocytosis Precision Panel is used for patients with a clinical diagnosis or suspicion with or without the following symptoms:
- Neurologic dysfunction
- Liver dysfunction
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment involving a multidisciplinary team focusing on haematopoietic stem cell transplantation, medical treatment including immune suppressants, steroids and immunoglobins.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
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