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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

Fig. 1

Molecular diagnostic workup in endocrine diseases. Genetic testing should be based on a comprehensive clinical diagnostic workup as a detailed phenotypic description both of clinical as well as endocrine laboratory features is key to the accuracy and yield of molecular testing. If possible, a targeted testing strategy should be preferred to avoid incidental findings. However, for very heterogeneous disorders WES-based approaches are suitable (for examples see Table 1)

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