• Demystifying genetic testing in rare diseases

  • Jan 7 2025
  • Durée: 25 min
  • Podcast

Demystifying genetic testing in rare diseases

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  • Résumé

  • Dr. Viraj Patel, a clinical geneticist from Guy's and St Thomas' in London, discusses what is involved in genetic testing to identify individuals with rare diseases. Dr. Patel discusses what has changed over recent years, including the introduction of Genomic Laboratory Hubs (GLHs). This episode includes tips on what to do when you have an individual presenting with symptoms of unknown origin, and when/how to contact genetic counsellors.


    This podcast was initiated, organised and funded by Amicus Therapeutics UK Operations Ltd and is intended for healthcare professionals in UK. The views expressed reflect the experience and opinions of the speaker. Individual experiences may vary.


    NP-NN-UKI-00201024 (Date of preparation: October 2024)


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