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Nonalcoholic fatty liver disease (PNPLA3 gene)
Clinical Genetic Test
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offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000597632.1
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITY
Registered in GTR: 2022-09-08
View version history
Last annual review date for the lab: 2024-07-31 LinkOut
At a Glance
Test purpose: Help
Prognostic; Risk Assessment
Conditions (1): Help
Fatty liver disease, nonalcoholic, susceptibility to, 2
Genes (1): Help
PNPLA3 (22q13.31)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Uni-directional Sanger sequencing
Target population: Help
Not provided
Clinical validity: Help
An association has been reported between the variant c.444C>G (p.Ile148Met) …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
PNPLA3 I148M
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2930
Lab contact: Help
Marcela Lagos, MD, Lab Director
mlagos@med.puc.cl
+56 223548515
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
Uni-directional Sanger sequencing
Other
Clinical Information
Test purpose: Help
Prognostic; Risk Assessment
Clinical validity: Help
An association has been reported between the variant c.444C>G (p.Ile148Met) of PNPLA3 gene with nonalcoholic fatty liver disease (NAFLD).
View citations (1)
  • A common variant in the patatin-like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents. Santoro N, et al. Hepatology. 2010;52(4):1281-90. doi:10.1002/hep.23832. PMID: 20803499.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
To implement the technique, genomic DNA extracted from 24 randomly selected patients was analyzed to detect the c.444C>G variant. The results showed that 58% of the subjects had heterozygous G/C genotype, 21% were homozygous C/C and 21% homozygous G/G. These results are consistent with the frequency of the variant reported … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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