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

May 23, 2025

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 TGFBR1TGFBR2TGFB2 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.

 

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