Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping
Also known as: PNPLA3
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.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 31208-2
- 35474-6
- 50398-7
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA)
Storage Instructions
Refrigerated.
Causes for Rejection
Plasma or serum; specimens collected in sodium heparin or lithium heparin; frozen specimens in glass tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | 1 month |
Other tests from different labs that may be relevant