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Endocrine
Erschienen in: Endocrine 1/2022

13.11.2021 | Review

A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes

verfasst von: Sunita M. C. De Sousa, Richard W. Carroll, Alex Henderson, John Burgess, Roderick J. Clifton-Bligh

Erschienen in: Endocrine | Ausgabe 1/2022

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Abstract

Purpose

The improved access and affordability of next generation sequencing has facilitated the clinical use of gene panel testing to test concurrently patients for multiple heritable hyperparathyroidism syndromes. However, there is little guidance as to which patients should be selected for gene panel testing and which genes should be included in such panels. In this review, we provide a practical approach to considering, interpreting and managing genetic testing for familial primary hyperparathyroidism (PHPT) syndromes and familial hypocalciuric hypercalcaemia (FHH) in patients with PTH-dependent hypercalcaemia. We discuss known genes implicated in PHPT and FHH, testing criteria and yields, pre-test counselling, laboratory considerations, and post-test management.

Methods

In addition to reviewing the literature, we conducted audits of local genetic testing data to examine the real-world yield of genetic testing in patients with PTH-dependent hypercalcaemia.

Results

Our local audits revealed a positive genetic testing rate of 15–26% in patients with suspected hyperparathyroidism syndromes.

Conclusion

Based on the particular testing criteria met, affected patients should be tested for variants in the genes currently implicated in PHPT (MEN1, CDC73, RET, CDKN1B, GCM2, CASR) and/or FHH (CASR, GNA11, AP2S1). Patients should be provided with pre- and post-test counselling, including consideration of potential implications for family members.
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Metadaten
Titel
A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes
verfasst von
Sunita M. C. De Sousa
Richard W. Carroll
Alex Henderson
John Burgess
Roderick J. Clifton-Bligh
Publikationsdatum
13.11.2021
Verlag
Springer US
Erschienen in
Endocrine / Ausgabe 1/2022
Print ISSN: 1355-008X
Elektronische ISSN: 1559-0100
DOI
https://doi.org/10.1007/s12020-021-02927-3

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