We have designed a novel gene panel which incorporates approximately 60 genes associated with short stature and include: GH-IGF-1 axis genes and genes involved in short stature syndromes such as Noonan and 3M syndrome.
This panel enables us to simultaneously analyse multiple genes in one test. We believe this will speed-up the genetic testing and therefore the diagnosis for patients. It is also likely to improve the diagnostic yield.
We do not currently offer genetic testing for Silver-Russell Syndrome (SRS). If SRS is suspected, please arrange for these tests to be done locally following discussion with your clinical genetics team. We are also happy to undertake analysis of patients in whom SRS testing (11p15 LOM or upd(7)mat) is negative.