Pathogenic variants in a number of genes involved in growth have been identified in diverse clinical disorders. The Growth Failure in Early Childhood gene panel consists of 48 genes (see here for list of genes). Copy number and methylation analysis of the 11p15 imprinted growth regulatory region and methylation analysis of the GRB10 and MEST genes on chromosome 7 (UPD7 growth regulatory critical region) is also available for patients with a suspected diagnosis of Silver-Russell syndrome.
NHSE test directory code R147. Testing criteria can be found on this webpage: https://www.england.nhs.uk/publication/national-genomic-test-directories/.
NHSE test directory codes:
R147.1 Growth Failure in Early Childhood gene panel
R147.2 11p15 imprinted growth regulatory region and UPD7 growth regulatory region
8092
