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Biopharma Group – 19th March 2025

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Almac Diagnostic Services launches PNPLA3 Genotyping Kit for Liver Disease Research

Almac kit will assist researchers with further insights into MASH / MASLD biology

Almac Diagnostic Services, a member of the Almac Group, has today announced the launch of a new PNPLA3 genotyping kit for liver disease research.

This novel kit provides accurate genotyping of the PNPLA3 gene within a simple workflow, providing researchers with further biological insights into steatotic liver disease (including MASH and MASLD).

The Almac qPCR based kit delivers highly repeatable and reproducible results (≥99%) from blood or buccal swab specimens, with hands-on time of less than 30 minutes. It includes three genotyping assay controls to ensure confidence for researchers in allelic assay calls. 

Metabolic dysfunction-associated steatotic liver disease (MASLD), is one of the most common forms of chronic liver disease, with an estimated prevalence of about 30% across many countries.The I148M genotype variant of the PNPLA3 gene is linked to liver disease severity and fibrosis progression even in the absence of classical metabolic dysfunction such as obesity.

By providing a reliable method to genotype the PNPLA3 gene, Almac is enabling researchers to identify genetic risk factors to understand the underlying genetic predisposition to MASLD better, to investigate how the I148M variant influences disease severity and fibrosis progression, and to develop future targeted therapies through better disease population understanding.

Michael Sloan, Global VP of Commercial Development, Almac Diagnostic Services said: The launch of the Almac PNPLA3 Genotyping Kit represents our commitment to providing researchers with the tools they need to uncover useful biological information to further precision medicine in liver disease.

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