Classic view of this page
PNPLA3 Genotyping (2 Day STAT TAT)
Clinical Genetic Test
Help
offered by
Machaon Diagnostics
GTR Test Accession: Help GTR000592982.1
INHERITED DISEASEDIGESTIVE SYSTEMENDOCRINOLOGY ... View more
Registered in GTR: 2021-04-29
View version history
Last annual review date for the lab: 2023-04-07 Past due LinkOut
At a Glance
Test purpose: Help
Mutation Confirmation
Conditions (1): Help
NAFLD1
Genes (1): Help
PNPLA3 (22q13.31)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: qPCR
Target population: Help
Not provided
Clinical validity: Help
The rs738409 variation is strongly associated with fatty liver disease …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Machaon Diagnostics
View lab's website
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test service: Help
Genotyping
Result interpretation
Test development: Help
Test developed by laboratory (no manufacturer test name)
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:
Test Order Code, How to Order, Lab contact for this test, Contact policy, Test strategy
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
qPCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Mutation Confirmation
Clinical validity: Help
The rs738409 variation is strongly associated with fatty liver disease (Basu 2019).
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
During validation, no false negatives or false positive results were observed. Analytical specificity and sensitivity are >99%.
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

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.