Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping

Casandra

Casandra Test Code AR98578Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2014599CPT Code 81479

Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping

Also known as: PNPLA3

Clinical Use

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Use

Fatty liver disease involves the accumulation of excessive triglycerides in the liver, leading to inflammatory responses that can progress to fibrosis, cirrhosis, and liver cancer. The c.444C>G; p.I148M variant in the PNPLA3 gene increases the risk for non-alcoholic fatty liver disease (NAFLD) onset and progression and the risk for cirrhosis among individuals with alcoholic liver disease. NAFLD occurs in about 20-30% of individuals in the U.S., and the G allele frequency varies by ethnicity, with higher prevalence in Latino and East Asian populations.

Special Instructions

Informed consent for genetic testing is required for New York patients. Individuals with NAFLD may have additional genetic or environmental risk factors that are not detected by this assay.

Limitations

This test targets only the c.444C>G; p.I148M variant in the PNPLA3 gene. Diagnostic errors may occur due to rare sequence variations. The clinical sensitivity of the test is unknown, and its performance characteristics are consistent with being developed as a laboratory-developed test (LDT). It is not cleared or approved by the FDA, though it is performed in a CLIA-certified lab.

Test Details

New York Approved