To better serve our customers and their patients, we have made updates to our SOMA genomic testing, which provides next-generation sequencing of key genes implicated in segmental overgrowth, McCune Albright and related syndromes.
All new orders of SOMA testing will require completion of the updated requisition.
We now offer a new tests for Curry-Jones syndrome and Maffucci syndrome. In addition, we have added genes to the Somatic Overgrowth and the Epidermal Nevus Syndrome Gene Sets.
SMO, the gene shown to be associated with the recently defined Curry-Jones syndrome, demonstrates phenotypic overlap particularly in relation to cerebral phenotypes observed in somatic disorders associated with the PI3K-AKT-MTOR pathway. Inclusion of SMO will expand the clinical reach of the assay and aid in defining the molecular etiology of patient disease (PMID: 27236920).
In addition, genetic testing for Maffucci syndrome and Ollier disease for the detection of somatic alterations associated with cartilaginous tumors and soft tissue hemangiomas is now available. Somatic variation within IDH1 and IDH2 has been described in these disease settings (PMID: 22057236).
Finally, new genes have been added to our Epidermal Nevus syndrome gene set including FGFR3, associated with Garcia-Hafner-Happle syndrome (PMID:24891911) and PIK3CA associated with epidermal nevi and seborrheic keratoses (PMID:17673550).
Ask us about our ability to support somatic analysis of other genes associated with mosaic disease.