Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping
Ordering Recommendation

Screen for genetic susceptibility to non-alcoholic fatty liver disease and cirrhosis progression in alcoholic liver disease.

Polymerase Chain Reaction/Fluorescence Monitoring
7-10 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Plasma or serum. Specimens collected in sodium heparin or lithium heparin 
Ambient: 72 hours; Refrigerated: 1 week; Frozen: unacceptable 
Reference Interval
Interpretive Data
Background Information for Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping:
Fatty liver disease is the accumulation of excessive triglycerides in the liver that may cause an inflammatory response, which can progress to fibrosis, cirrhosis, and liver cancer. The c.444C>G; p.I148M variant in the PNPLA3 gene confers an increased risk for the onset and progression of non-alcoholic fatty liver disease (NAFLD). This allele also confers an increased risk for the onset and progression of cirrhosis among individuals with alcoholic liver disease.
Incidence: NAFLD occurs in approximately 20-30 percent of individuals in the US.
G Allele Frequency: Varies by ethnicity; Latino 0.57, East Asian 0.38, European 0.23, South Asian 0.22, Africans 0.14.
Cause: Risk factors for non-alcoholic fatty liver disease include obesity, diabetes, insulin resistance and genetic risk factors including PNPLA3 c.444C>G; p.I148M.
Inheritance: Multifactorial.
Clinical Sensitivity: Unknown.
Variant Tested: PNPLA3 c.444C>G; p.I148M (rs738409).
Methodology: Polymerase chain reaction followed by high-resolution melt analysis.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Only the c.444C>G; p.I148M variant in the PNPLA3 gene will be targeted. Diagnostic errors can occur due to rare sequence variations.

Statement C: Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
Component Test Code*Component Chart NameLOINC
2014600PNPLA3 Specimen31208-2
2014601PNPLA3 Variant35474-6
2014602PNPLA3 Interpretation50398-7
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please view this test within the Laboratory Test Directory found at
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