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 > Pulmonology > Primary Ciliary Dyskinesia Precision Panel  

Primary Ciliary Dyskinesia Precision Panel

Primary Ciliary Dyskinesia (PCD) is a highly heterogeneous syndrome characterized by congenital impairment of mucociliary clearance (MCC). The underlying cause is a defect of cilia in the airways, making them unable to beat normally and move respiratory secretions.
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • Primary Ciliary Dyskinesia (PCD) is a highly heterogeneous syndrome characterized by congenital impairment of mucociliary clearance (MCC). The underlying cause is a defect of cilia in the airways, making them unable to beat normally and move respiratory secretions. This defect also has an impact in sperm flagella, generating living but immotile spermatozoa and making patients infertile. 

  • The most common defects causing this disease are found in any polypeptide within the axoneme of cilia, in proteins present in the ciliary membrane and matrix, or in proteins needed for the proper assembly of cilia. Depending on the component missing or defective, different clinical manifestations may develop, being the symptoms and disease onset dependent on the underlying genetic defect. Some mutations result in abnormal ultrastructure, while others cause abnormal function but preserved structure. Since nodal cilia are also defective in embryos, body asymmetry occurs randomly so that approximately 50 percent of the patients have situs inversus totalis. The mode of inheritance is mainly autosomal recessive. 

  • The Igenomix Primary Ciliary Dyskinesia Precision Panel can be used to make an accurate and directed diagnosis as well as a differential 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 Primary Ciliary Dyskinesia Precision Panel is indicated for those patients with a clinical diagnosis or suspicion presenting with or without the following manifestations: 

  • Respiratory distress 
  • Rhinosinusitis 
  • Situs inversus 
  • Frequent otitis media 
  • Fatigue and headaches 
  • Decreased fertility or infertility 

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 multidisciplinary treatment including pharmacological treatment in form of mucolytic agents and antibiotics to deal with frequent infections and exacerbations. Daily chest physiotherapy is commonly used to help reduce the microbial load. Surgical intervention in form of bilateral lung transplantation is also an option for patients with end-stage respiratory insufficiency. 
  • 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

Afzelius B. A. (1976). A human syndrome caused by immotile cilia. Science (New York, N.Y.), 193(4250), 317–319. https://doi.org/10.1126/science.1084576 

Noone, P. G., Leigh, M. W., Sannuti, A., Minnix, S. L., Carson, J. L., Hazucha, M., Zariwala, M. A., & Knowles, M. R. (2004). Primary ciliary dyskinesia: diagnostic and phenotypic features. American journal of respiratory and critical care medicine, 169(4), 459–467. https://doi.org/10.1164/rccm.200303-365OC 

Kuehni, C. E., Frischer, T., Strippoli, M. P., Maurer, E., Bush, A., Nielsen, K. G., Escribano, A., Lucas, J. S., Yiallouros, P., Omran, H., Eber, E., O’Callaghan, C., Snijders, D., Barbato, A., & ERS Task Force on Primary Ciliary Dyskinesia in Children (2010). Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. The European respiratory journal, 36(6), 1248–1258. https://doi.org/10.1183/09031936.00001010 

Leigh, M. W., Ferkol, T. W., Davis, S. D., Lee, H. S., Rosenfeld, M., Dell, S. D., Sagel, S. D., Milla, C., Olivier, K. N., Sullivan, K. M., Zariwala, M. A., Pittman, J. E., Shapiro, A. J., Carson, J. L., Krischer, J., Hazucha, M. J., & Knowles, M. R. (2016). Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents. Annals of the American Thoracic Society, 13(8), 1305–1313. https://doi.org/10.1513/AnnalsATS.201511-748OC 

Ellerman, A., & Bisgaard, H. (1997). Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. The European respiratory journal, 10(10), 2376–2379. https://doi.org/10.1183/09031936.97.10102376 

Tkebuchava, T., Niederhäuser, U., Weder, W., von Segesser, L. K., Bauersfeld, U., Felix, H., Lachat, M., & Turina, M. I. (1996). Kartagener’s syndrome: clinical presentation and cardiosurgical aspects. The Annals of thoracic surgery, 62(5), 1474–1479. https://doi.org/10.1016/0003-4975(96)00493-6 

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