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 > Pulmonology > Surfactant Metabolism Dysfunction

        Surfactant Metabolism Dysfunction

        Surfactant Metabolism Dysfunction is a condition characterized by insufficient pulmonary surfactant needed for appropriate respiration. 
        Overview
        Indication
        Clinical Utility
        Genes & Diseases
        Methodology
        References

        Overview

        • Surfactant Metabolism Dysfunction is a condition characterized by insufficient pulmonary surfactant needed for appropriate respiration. Pulmonary surfactant is responsible for maintaining surface tension at the liquid-air interphase in the alveoli, so a deficiency in this component results in easily collapsing alveoli immediately after expiration. Surfactant is composed of phospholipids and proteins and so a deficient metabolism can lead to an imbalance in the amount of these components resulting in a non-functioning surfactant. Genetic disorders of the surfactant homeostasis genes can lead to multiple lung diseases in neonates, children and adults, including neonatal respiratory distress syndrome, interstitial pneumonia, pulmonary alveolar proteinosis and pulmonary fibrosis.   

        • The Igenomix Surfactant Metabolism Dysfunction Precision Panel can be used as a diagnostic and screening tool 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. 

        Indication

        The Igenomix Surfactant Metabolism Dysfunction Precision Panel is indicated in those cases where there is a clinical suspicion of surfactant metabolism dysfunction with or without the following manifestations:  

        • Abnormally rapid breathing (tachypnea) 
        • Low concentration of oxygen in blood (hypoxemia) 
        • Failure to thrive 
        • Premature birth 

        Clinical Utility

        The clinical utility of this panel is:  

        • The genetic and molecular diagnosis for an accurate clinical diagnosis and improve prognosis. 
        • Early initiation of treatment with a multidisciplinary team to maintain lung function, early surfactant replacement therapy, and manage complications.    
        • Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.  

        Genes & Diseases

        Methodology

        References

        See scientific referrals

        McFetridge, L., McMorrow, A., Morrison, P. J., & Shields, M. D. (2009). Surfactant Metabolism Dysfunction and Childhood Interstitial Lung Disease (chILD). The Ulster medical journal, 78(1), 7–9. 

        Al-Saiedy, M., Pratt, R., Lai, P., Kerek, E., Joyce, H., Prenner, E., Green, F., Ling, C. C., Veldhuizen, R., Ghandorah, S., & Amrein, M. (2018). Dysfunction of pulmonary surfactant mediated by phospholipid oxidation is cholesterol-dependent. Biochimica et biophysica acta. General subjects, 1862(4), 1040–1049. https://doi.org/10.1016/j.bbagen.2018.01.008 

        Nkadi, P. O., Merritt, T. A., & Pillers, D. A. (2009). An overview of pulmonary surfactant in the neonate: genetics, metabolism, and the role of surfactant in health and disease. Molecular genetics and metabolism, 97(2), 95–101. https://doi.org/10.1016/j.ymgme.2009.01.015 

        Nogee L. M. (2004). Genetic mechanisms of surfactant deficiency. Biology of the neonate, 85(4), 314–318. https://doi.org/10.1159/000078171 

        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