Improved – P148 TGFBR1-TGFBR2-TGFB2-SMAD3 – Featuring New Probes Targeting TGFB2 and SMAD3

Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by a wide range of symptoms, including vascular, skeletal, and skin-related findings as well as specific craniofacial features. Although LDS bears certain similarities to Marfan syndome, it is in fact a distinct condition with a different genetic background. The severity and nature of LDS symptoms can vary significantly among affected individuals.

P148 TGFBR1-TGFBR2-TGFB2-SMAD3  is an assay for the detection of deletions or duplications in the TGFBR1, TGFBR2, TGFB2 and SMAD3 genes, which are implicated in LDS.

The new C1 version of P148 TGFBR1-TGFBR2-TGFB2-SMAD3 is now available on the market, featuring several new probes targeting TGFB2 and SMAD3, and a number of improved target and reference probes that together increase the coverage and robustness of the probemix.