Almac PNPLA3 Genotyping Kit
Almac Diagnostic Services has developed the Almac PNPLA3 Genotyping Kit, providing researchers with better insights into MASH / MAFLD biology.
Highlights
- Highly accurate
- Simple workflow
- Little hands-on lab time
- Suitable for multiple qPCR instruments

Background to Metabolic dysfunction-associated steatotic liver disease and PNPLA3
Metabolic dysfunction-associated steatotic liver disease (MASLD), including MASH and MAFLD, is one of the most common forms of chronic liver disease, with an estimated prevalence of about 30% across many countries.1
The I148M genotype variant of the PNPLA3 gene is associated with MASH / MAFLD disease severity and fibrosis progression even in the absence of classical metabolic dysfunction (including obesity) and as such is of significant research interest to the field.
Intended Use
The Almac PNPLA3 Genotyping Kit is a qualitative polymerase chain reaction (qPCR) based kit that contains the reagents required for identification of the I148M (rs738409) genotype within the PNPLA3 gene from DNA isolated from whole blood or buccal swabs and using the QuantStudio5™ instrument. (Additional instrument compatibility to follow).
The Almac PNPLA3 Genotyping Kit will be used for research use only, offering accurate genotyping of the PNPLA3 gene to provide researchers with better insights into MASH / MAFLD biology.
For research use only. Not for use in diagnostic procedures.
Assay Overview
Almac Diagnostic Services has developed the PNPLA3 Genotyping Kit for the Intended Use described above. The Almac PNPLA3 Genotyping kit contains the required reagents to enable allelic discrimination of rs738409 (C>G) within the PNPLA3 gene from 20 ng DNA derived from whole blood or buccal swab specimens.
The assay kit includes 3 genotype assay controls (rs738409 homozygous C/C, rs738409 homozygous G/G and rs738409 heterozygous C/G) to ensure confidence in allelic assay calls. DNA is extracted using commercially available kits, and qPCR is performed on the QuantStudio5™ instrument, using on instrument genotyping software (Additional instrument compatibility to follow).
Assay Fact Sheet
For more information, including performance specifications of the assay, download our Almac PNPLA3 Genotyping Kit factsheet below:
References
1 – The global epidemiology of nonalcoholic fatty liver disease (NAFLD) and nonalcoholic steatohepatitis (NASH): a systematic review https://pubmed.ncbi.nlm.nih.gov/36626630/
Register Your Interest
We are currently taking expressions of interest in the Almac PNPLA3 Genotyping kit. Simply fill in your details below and we will be in touch about ordering from May 2025.