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GTR Home > Tests > CustomNext-Cardio®

Indication

This is a clinical test intended for Help: Diagnosis, Pre-symptomatic

Clinical summary

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Imported from OMIM

Familial glucocorticoid deficiency-5 (GCCD5) is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Hyperpigmentation of the skin
  • Decreased circulating cortisol level
  • Abnormal response to ACTH stimulation test

Conditions tested

Target population

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Not provided

Clinical validity

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Clinical validity depends on specific clinical and family history.

Citations

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Clinical utility

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Not provided

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