Almac Diagnostic Services PNPLA3 Genotyping Kit

Background to Steatotic liver disease and PNPLA3

Steatotic liver disease (SLD), including MASH and 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 associated with MASH / MASLD 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.

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 QuantStudio5Dx™ instrument.

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 / MASLD biology.

For research use only. Not for use in diagnostic procedures.

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 homozygousG/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 QuantStudio5Dx™ instrument, using on instrument genotyping software.

You can order up to 10 kits online. If you require more than 10 kits, please contact ADSSales@almacgroup.com

Target
PNPLA3

Alteration
rs738409 l148M

Technique
qPCR

Sample Type
Blood and Buccal swabs

Kit reaction size
24 reactions

Components
Assay Primers, Genotyping mastermix + 3 assay controls

Benefits
Simple to use and highly accurate

Performance
Repeatability >99%
Reproducibility >99%

Hands on time
<30 minutes

Input requirements
20ng of DNA

Species category
Human

Almac PNPLA3 Genotyping Kit (385kb)

Certificate of Analysis (850kb)

What is the Almac PNPLA3 Genotyping Kit used for? 

The Almac PNPLA3 Genotyping Kit is designed for research use only and provides accurate genotyping of the PNPLA3 gene. It helps researchers gain better insights into metabolic dysfunction-associated steatotic liver disease (MASLD) and metabolic-associated steatohepatitis (MASH) biology. The kit enables the identification of the I148M (rs738409) genotype within the PNPLA3 gene from DNA isolated from whole blood or buccal swabs.

What are the key features of the Almac PNPLA3 Genotyping Kit? 

The Almac PNPLA3 Genotyping Kit is analytically robust and highly accurate, with a simple workflow and reduced hands-on lab time. It includes three genotype assay controls (rs738409 homozygous C/C, rs738409 homozygous G/G, and rs738409 heterozygous C/G) to ensure confidence in allelic assay calls. The kit is designed to be used with the QuantStudio5Dx™ instrument, with additional instrument compatibility to follow.

What sample types can be used with the Almac PNPLA3 Genotyping Kit? 

The kit is designed to work with DNA isolated from whole blood or buccal swabs. It includes the necessary reagents for allelic discrimination of the rs738409 (C>G) genotype within the PNPLA3 gene.

What should I do if I encounter technical problems?

Refer to the Troubleshooting Guide in the PNPLA3 Genotyping Kit Product Insert. If the issue is not resolved, please contact the Almac Technical Team for further assistance.

What is the Maximum number of kits I can order from your Shop?

Currently, the maximum order through the Almac shop is 10 kits. If you require more than 10 kits, please contact: ADSSales@almacgroup.com

What is the expected time from order to delivery?

Typically, orders will be fulfilled between 7-10 working days from the date of ordering to delivery.

Talk to our team if you have any further questions on Almac Diagnostic Services Products.
Contact support at ADSSupport@almacgroup.com