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If growth is considered abnormal, system and hormonal tests are likely to be required, followed by more directed testing, such as skeletal survey and\/or genetic screening with karyotype or microarray. In a small percentage of short children in whom a diagnosis has not been reached, this will need to be followed by detailed genetic analysis; currently, exome sequencing using targeted panels relevant to the phenotype is the commonly used test. Clinical scenarios are presented that illustrate how such genetic testing can be used to establish a molecular diagnosis, and how that diagnosis contributes to the management of the short child. New genetic causes for short stature are being recognized on a frequent basis, while the clinical spectrum for known genes is being extended. We recommend that an international repository for short stature conditions is established for new findings to aid dissemination of knowledge, but also to help in the definition of the clinical spectrum both for new and established conditions.<\/jats:p>","DOI":"10.1210\/clinem\/dgac637","type":"journal-article","created":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T17:40:26Z","timestamp":1668102026000},"page":"1007-1017","source":"Crossref","is-referenced-by-count":11,"title":["Approach to the Patient With Short Stature: Genetic Testing"],"prefix":"10.1210","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3072-0055","authenticated-orcid":false,"given":"Reena","family":"Perchard","sequence":"first","affiliation":[{"name":"Department of Developmental Biology and Medicine, University of Manchester , Manchester M13 9PL , UK"},{"name":"Department of Paediatric Endocrinology, Royal Manchester Children's Hospital , Manchester M13 9WL , UK"},{"name":"Manchester Academic 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