Home
HelpNon-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping
Specimen and Container/Tube
Specimen Type: Whole Blood
Container/Tube:
Preferred: Lavender (EDTA)
Acceptable: NA
Volume
Collection Volume: 4.0 ml
Minimum Collection Volume: 1.0 ml
Specimen Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month
Collection Instructions
Collect specimen per standard laboratory collection procedures
Specimen Handling and Transport Instructions
Storage/Transport Temperature: Refrigerated
Off-site:
1. Do not aliquot.
2. Transport refrigerated to UCM main lab.
On-Site:
1. Do not aliquot.
2. Transport refrigerated to Mayo
NOTE:
Minimum volume does not permit for repeat testin
Rejection Criteria
Plasma or serum. Specimens collected in sodium heparin or lithium heparin. Frozen specimens in glass collection tubes.
Turnaround Time
7-10 days
Clinical Indications
Background Information for Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping:
Characteristics: 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 U.S.
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 (PCR) and fluorescence monitoring.
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.
CPT Codes
81479
LOINC Codes
31208-2
35474-6
50398-7
Methodology
Polymerase chain reaction (PCR) and fluorescence monitoring
Additional Information
Screen for genetic susceptibility to non-alcoholic fatty liver disease and cirrhosis progression in alcoholic liver disease.