Endocrine Abstracts (2016) 45 S2.1 | DOI: 10.1530/endoabs.45.S2.1

One gene to 100,000 genomes - the evolution of genetic testing in endocrine disorders

Abhijit Dixit


Developments in next-generation sequencing technology have revolutionised the landscape of genetic testing for heterogeneous genetic disorders. There is an emerging need for closer cooperation between endocrinologists and clinical geneticists, including the setting up of multidisciplinary clinics. Examples from a range of endocrine disorders and syndromes diagnosed by targeted single gene testing, multigene panel tests and whole exome/genome sequencing techniques will be presented and role of the clinical geneticist in the paediatric endocrine clinic will be highlighted.

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