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 > Prenatal > Primary Microcephaly Precision Panel

      Primary Microcephaly Precision Panel

      Microcephaly is generally defined as a small head size, typically greater than two standard deviations below normal, as measured via occipital frontal circumference, using a measuring tape. Microcephaly is a clinical sign and not a disease.
      Overview
      Indication
      Clinical Utility
      Genes & Diseases
      Methodology
      References

      Overview

      • Microcephaly is generally defined as a small head size, typically greater than two standard deviations below normal, as measured via occipital frontal circumference, using a measuring tape. Microcephaly is a clinical sign and not a disease. It is the result of a premature fusion of the skull sutures that leads to an abnormal shape and a growth limitation of the head circumference that can later result in long term neurological sequelae. The cause of microcephaly can be divided in two groups: premature fusion of cranial sutures, also known as craniosynostosis or poor brain growth. Genetic conditions are one of the etiologies of microcephaly and include: Trisomy 21, 13, 18, Cri Du Chat syndrome, Williams syndrome etc. Also, inborn errors of metabolism, disruptive injuries and maternal deprivation problems can lead to microcephaly. Primary microcephaly is usually inherited in an autosomal recessive pattern.  

      • The Igenomix Primary Microcephaly Precision Panel  can be as a diagnostic tool to reveal underlying genetic conditions 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, and their high or intermediate penetrance. 

      Indication

      • The Igenomix Primary Microcephaly Precision Panel is indicated in those cases where there is:  
        • Head circumference more than 2 standard deviations below the mean 
        • Consistent low percentile of head circumference ultrasound measurements during pregnancy 
        • Associated syndromic features: congenital heart defects, umbilical hernia, hypotonia, low set ears, short neck, overlapping fingers, micrognathia, polydactyly etc  

      Clinical Utility

      The clinical utility of this panel is: 

      • The genetic and molecular diagnosis for an accurate clinical diagnosis of microcephaly as well as underlying genetic conditions.  
      • Early initiation of treatment with a multidisciplinary team for appropriate surveillance, surgical care and long-term monitoring to ensure proper cerebral and cranial growth.
      • Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
      • Improved pathways from diagnosis to treatment in susceptible populations.

      Genes & Diseases

      Methodology

      References

      See scientific referrals

      Shaheen, R., Maddirevula, S., Ewida, N., Alsahli, S., Abdel-Salam, G., Zaki, M. S., Tala, S. A., Alhashem, A., Softah, A., Al-Owain, M., Alazami, A. M., Abadel, B., Patel, N., Al-Sheddi, T., Alomar, R., Alobeid, E., Ibrahim, N., Hashem, M., Abdulwahab, F., Hamad, M., … Alkuraya, F. S. (2019). Genomic and phenotypic delineation of congenital microcephaly. Genetics in medicine : official journal of the American College of Medical Genetics, 21(3), 545–552. https://doi.org/10.1038/s41436-018-0140-3 

      Vargas, J., Allred, E., Leviton, A., & Holmes, L. (2001). Congenital microcephaly: Phenotypic features in a consecutive sample of newborn infants. The Journal Of Pediatrics, 139(2), 210-214. doi: 10.1067/mpd.2001.115314 

      Ashwal, S., Michelson, D., Plawner, L., & Dobyns, W. (2009). Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology, 73(11), 887-897. doi: 10.1212/wnl.0b013e3181b783f7 

      Selected Birth Defects Data from Population-based Birth Defects Surveillance Programs in the United States, 2003-2007. (2010). Birth Defects Research Part A: Clinical And Molecular Teratology, 88(12), 1062-1174. doi: 10.1002/bdra.20760 

      Passemard, S., Kaindl, A. M., & Verloes, A. (2013). Microcephaly. Handbook of clinical neurology, 111, 129–141. https://doi.org/10.1016/B978-0-444-52891-9.00013-0 

      Mochida G. H. (2009). Genetics and biology of microcephaly and lissencephaly. Seminars in pediatric neurology, 16(3), 120–126. https://doi.org/10.1016/j.spen.2009.07.001 

      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