Skip to content
  • Argentina
  • Brazil
  • Canada
  • Chile
  • Colombia
  • Europe
  • France
  • Germany
  • India
  • Italy
  • Japan
  • Korea
  • Mexico
  • Perú
  • Russia
  • Spain
  • Taiwan
  • The Middle East
  • Turkey
  • United Kingdom
  • United States
  • Vietnam
  • Country/Region
    • Clinic Portal
      • +0034963905310
    • Request Information
    • +34 96 390 53 10
    InternationalInternational
    • Country/Region
    • We guide you
      • Fertility
        • What to do if…
      • Prevent Inherited Diseases
        • Carrier Genetic Test
      • Worry-free Pregnancy
        • NACE
        • Prenatal Diagnostics
        • Newborn Health
    • Reproductive Health
      • Specialists
        • ALICE
        • EMMA
        • ERA
        • EndomeTRIO
        • EMBRACE
        • CGT
        • NACE
        • Zenit
        • PGT-A
        • PGT-M
        • POC
        • SAT
        • Newborn Screening
      • Patients
        • ALICE
        • EMMA
        • ERA
        • EndomeTRIO
        • EMBRACE
        • CGT
        • NACE
        • Zenit
        • PGT-A
        • PGT-M
        • SAT
        • POC
    • Diagnostics
    • About us
      • Igenomix Research
      • About Igenomix
    • Academy
    • Blog
        Genomics Precision Diagnostic > Immunology Precision Panel > Hemophagocytic Lymphohistiocytosis Precision Panel

        Hemophagocytic Lymphohistiocytosis Precision Panel

        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.
        Overview
        Indication
        Clinical Utility
        Genes & Diseases
        Methodology
        References

        Overview

        • 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. 

        Indication

        • The Igenomix Severe Hemophagocytic Lymphohistiocytosis Precision Panel is used for patients with a clinical diagnosis or suspicion with or without the following symptoms: 
          • Fever 
          • Splenomegaly 
          • Neurologic dysfunction 
          • Coagulopathy 
          • Liver dysfunction 
          • Cytopenias 
          • Hypertriglyceridemia 
          • Hyperferritinemia 

        Clinical Utility

        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.  

        Genes & Diseases

        Methodology

        References

        See scientific referrals

        George M. R. (2014). Hemophagocytic lymphohistiocytosis: review of etiologies and management. Journal of blood medicine, 5, 69–86. https://doi.org/10.2147/JBM.S46255 

        Al-Samkari, H., & Berliner, N. (2018). Hemophagocytic Lymphohistiocytosis. Annual review of pathology, 13, 27–49. https://doi.org/10.1146/annurev-pathol-020117-043625 

        Stalder, G., Ribi, C., & Duchosal, M. A. (2018). Les lymphohistiocytoses hémophagocytaires [Hemophagocytic Lymphohistiocytosis]. Praxis, 107(16), 902–911. https://doi.org/10.1024/1661-8157/a003045 

        Skinner, J., Yankey, B., & Shelton, B. K. (2019). Hemophagocytic Lymphohistiocytosis. AACN advanced critical care, 30(2), 151–164. https://doi.org/10.4037/aacnacc2019463 

        Morimoto, A., Nakazawa, Y., & Ishii, E. (2016). Hemophagocytic lymphohistiocytosis: Pathogenesis, diagnosis, and management. Pediatrics international : official journal of the Japan Pediatric Society, 58(9), 817–825. https://doi.org/10.1111/ped.13064 

        Henter, J. I., Horne, A., Aricó, M., Egeler, R. M., Filipovich, A. H., Imashuku, S., Ladisch, S., McClain, K., Webb, D., Winiarski, J., & Janka, G. (2007). HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatric blood & cancer, 48(2), 124–131. https://doi.org/10.1002/pbc.21039 

        descargar

        Detail description

        Download

        Request Information


        WE GUIDE YOU

        Fertility
        Inherited diseases prevention
        Healthy pregnancy

        To see the accreditation certificate, associated technical annex and list of accredited tests, click on this link.

        OUR SERVICES

        Genetic solutions
        For patients
        How to send a sample?
        User manual

        ABOUT US

        About Igenomix
        Contact
        Quality
        Complaints
        Work with us

        FOLLOW IGENOMIX

          + 96 390 53 10
          Write us
        • Argentina
        • Brazil
        • Canada
        • Chile
        • Colombia
        • Europe
        • France
        • Germany
        • India
        • Italy
        • Japan
        • Korea
        • Mexico
        • Perú
        • Russia
        • Spain
        • Taiwan
        • The Middle East
        • Turkey
        • United Kingdom
        • United States
        • Vietnam
        Country/Region

        [2021] © Igenomix Privacy policy Quality policy Legal note Cookies policyNews and Press

        Request Information


        • We guide you
          • Fertility
            • What to do if…
          • Prevent Inherited Diseases
            • Carrier Genetic Test
          • Worry-free Pregnancy
            • NACE
            • Prenatal Diagnostics
            • Newborn Health
        • Reproductive Health
          • Specialists
            • ALICE
            • EMMA
            • ERA
            • EndomeTRIO
            • EMBRACE
            • CGT
            • NACE
            • Zenit
            • PGT-A
            • PGT-M
            • POC
            • SAT
            • Newborn Screening
          • Patients
            • ALICE
            • EMMA
            • ERA
            • EndomeTRIO
            • EMBRACE
            • CGT
            • NACE
            • Zenit
            • PGT-A
            • PGT-M
            • SAT
            • POC
        • Diagnostics
        • About us
          • Igenomix Research
          • About Igenomix
        • Academy
        • Blog
        • Country/Region
        • +34 96 390 53 10
        • Clinic Portal
        • Request Information

        We are using cookies to give you the best experience on our website.

        You can find out more about which cookies we are using or switch them off in settings.

        International
        Powered by  GDPR Cookie Compliance
        Privacy Overview

        This website uses cookies so that we can provide you with the best user experience possible. Cookie information is stored in your browser and performs functions such as recognising you when you return to our website and helping our team to understand which sections of the website you find most interesting and useful.

        Strictly Necessary Cookies

        Strictly Necessary Cookie should be enabled at all times so that we can save your preferences for cookie settings.

        If you disable this cookie, we will not be able to save your preferences. This means that every time you visit this website you will need to enable or disable cookies again.

        3rd Party Cookies

        This website uses Google Analytics to collect anonymous information such as the number of visitors to the site, and the most popular pages.

        Keeping this cookie enabled helps us to improve our website.

        Please enable Strictly Necessary Cookies first so that we can save your preferences!

        Cookie Policy

        More information about our Cookie Policy