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Genetic Testing
Manage episode 312495037 series 3236617
A tartalmat a David Cunnington and SCN2A Australia biztosítja. Az összes podcast-tartalmat, beleértve az epizódokat, grafikákat és podcast-leírásokat, közvetlenül a David Cunnington and SCN2A Australia vagy a podcast platform partnere tölti fel és biztosítja. Ha úgy gondolja, hogy valaki az Ön engedélye nélkül használja fel a szerzői joggal védett művét, kövesse az itt leírt folyamatot https://hu.player.fm/legal.
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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