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Genetic Testing
Manage episode 312495037 series 3236617
Sisällön tarjoaa David Cunnington and SCN2A Australia. David Cunnington and SCN2A Australia tai sen podcast-alustan kumppani lataa ja toimittaa kaiken podcast-sisällön, mukaan lukien jaksot, grafiikat ja podcast-kuvaukset. Jos uskot jonkun käyttävän tekijänoikeudella suojattua teostasi ilman lupaasi, voit seurata tässä https://fi.player.fm/legal kuvattua prosessia.
Genetic testing is complex with many different types of tests, and a range of terms used to describe the results of test, particularly in areas such as genetic epilepsy where research is moving so quickly. To help gain a better understanding of genetic testing and the results we talk to Dr Emma Palmer.
Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A.
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Links:
- Australian Genomics Health Alliance - genomics info
- Human Disease Genes - website series
- Rare chromosomes and gene disorders (Unique)
- Paediatric Epilepsy Network NSW (PENNSW) - epilepsy information for families and clinicians
- Talk at Genetic Epilepsy conference (GETA 2019) - video
- Parental mosaicism in 'de novo' epileptic encephalopathies - journal article
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