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Genetic Testing
Manage episode 312495037 series 3236617
İçerik David Cunnington and SCN2A Australia tarafından sağlanmıştır. Bölümler, grafikler ve podcast açıklamaları dahil tüm podcast içeriği doğrudan David Cunnington and SCN2A Australia veya podcast platform ortağı tarafından yüklenir ve sağlanır. Birinin telif hakkıyla korunan çalışmanızı izniniz olmadan kullandığını düşünüyorsanız burada https://tr.player.fm/legal özetlenen süreci takip edebilirsiniz.
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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