Genetic testing

Our genetic testing modalities have evolved and adapted to the advancing genetic sequencing technologies. Currently, we use whole-genome sequencing (WGS) to investigate the genetic causes of short stature through a robust, in-house analysis pipeline. Our approach includes a virtual gene panel of approximately 100 genes known to be associated with growth disorders. This includes genes within the GH–IGF-1 axis and genes implicated in recognised short stature syndromes such as Noonan and 3M syndrome.

Beyond panel analysis, we apply advanced variant prioritisation tools, including machine-learning–based approaches, assess copy number variation (CNV) using sequencing read depth, and evaluate deep intronic variants. Variants of interest can be followed up with functional validation if required.

We do not currently offer DNA methylation or upd(7)mat testing for Silver-Russell syndrome (SRS). If SRS is clinically suspected, we recommend arranging these tests locally in discussion with your clinical genetics team. We are, however, happy to undertake cases that are 11p15 LOM or upd(7)mat negative.