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
    • Part of brands: |
    InternationalInternational
    • Country/Region
      • Part of brands: |
      • 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
        • Igenomix Worldwide
      • Academy
      • Blog
      Genomics Precision Diagnostic > Nephrology > Meckel-Gruber Syndrome Precision Panel

      Meckel-Gruber Syndrome Precision Panel 

      Meckel-Gruber Syndrome (MKS) is a lethal, autosomal recessive neurodevelopmental condition characterized by a triad of symptoms which are occipital encephalocele, large polycystic kidneys and postaxial polydactyly.
      Overview
      Indication
      Clinical Utility
      Genes & Diseases
      Methodology
      References

      Overview

      • Meckel-Gruber Syndrome (MKS) is a lethal, autosomal recessive neurodevelopmental condition characterized by a triad of symptoms which are occipital encephalocele, large polycystic kidneys and postaxial polydactyly. It is caused by mutations in genes encoding proteins that allow an appropriate structure and function of the primary cilium. It belongs to a group of diseases known as ciliopathies, and since cilia are present in a variety of organs in the human organism it has several other manifestations. Associated abnormalities include oral clefting, genital anomalies, CNS alterations and liver fibrosis. The leading cause of death is pulmonary hypoplasia.  

      • The Igenomix Meckel-Gruber Syndrome Precision Panel can be used to make a directed and accurate diagnosis 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 Meckel-Gruber Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of Meckel-Gruber Syndrome presenting with: 
        • CNS abnormalities: occipital encephalocele, Dandy-Walker malformation, hydrocephalus, Arnold-Chiari malformation, microcephaly 
        • Polycystic kidneys 
        • Polydactyly 
        • Hepatic fibrosis
        • Cardiac malformations: atrial septal defect, coarctation of aorta and pulmonary stenosis 
        • Cleft lip and palate 
        • Genital anomalies 

      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 with a multidisciplinary team in the form of surgical repair of anatomic abnormalities. 
      • Risk assessment of asymptomatic family members according to the mode of inheritance. 
      • Improvement of delineation of genotype-phenotype correlation. 

      Genes & Diseases

      Methodology

      References

      See scientific referrals

      Hartill, V., Szymanska, K., Sharif, S. M., Wheway, G., & Johnson, C. A. (2017). Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances. Frontiers in pediatrics, 5, 244. https://doi.org/10.3389/fped.2017.00244 

      Radhakrishnan, P., Nayak, S. S., Shukla, A., Lindstrand, A., & Girisha, K. M. (2019). Meckel syndrome: Clinical and mutation profile in six fetuses. Clinical genetics, 96(6), 560–565. https://doi.org/10.1111/cge.13623 

      Szymanska, K., Hartill, V. L., & Johnson, C. A. (2014). Unraveling the genetics of Joubert and Meckel-Gruber syndromes. Journal of pediatric genetics, 3(2), 65–78. https://doi.org/10.3233/PGE-14090 

      Khurana, S., Saini, V., Wadhwa, V., & Kaur, H. (2017). Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation. Journal of ultrasound, 20(2), 167–170. https://doi.org/10.1007/s40477-016-0231-4 

      Smith, U., Consugar, M., Tee, L., McKee, B., Maina, E., & Whelan, S. et al. (2006). The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nature Genetics, 38(2), 191-196. doi: 10.1038/ng1713 

      Magann, E., Haas, D., Hill, J., Chauhan, S., Watson, E., & Learman, L. (2011). Oligohydramnios, Small for Gestational Age and Pregnancy Outcomes: An Analysis Using Precise Measures. Gynecologic And Obstetric Investigation, 72(4), 239-244. doi: 10.1159/000324570 

      Barker, A. R., Thomas, R., & Dawe, H. R. (2014). Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development. Organogenesis, 10(1), 96–107. https://doi.org/10.4161/org.27375 

      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
        • Igenomix Worldwide
      • 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