The Importance of Accuracy in Genetic Testing

When thinking about genetic health and coat testing, several factors can influence a person’s decision. Accuracy is almost always at the top of the list.
Many factors affect test accuracy, but the most important is the mutation being detected. Unlike breed testing, health and coat testing should give the same result across laboratories, assuming good laboratory procedures.
However, there are situations where results may differ, and it has nothing to do with laboratory competence. Surprisingly, not all laboratories test for the same mutation for certain diseases or coat traits.
Direct vs. Indirect Testing
When doing genetic testing, there are two ways to test for a mutation: direct and indirect testing.
Direct Testing
Direct testing is straightforward. It detects the mutation scientifically proven to cause the disease.
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Direct testing creates a clear connection between a test result and what you can expect in the dog.
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It is the most accurate method available.
Sometimes direct testing is not feasible for a laboratory, and that’s when indirect testing is used.
Indirect Testing
Indirect testing, also called linkage testing, looks for mutations near the disease-causing mutation. Most of the time, these mutations signal the presence of the disease-causing mutation.
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A biological process called recombination can separate these nearby mutations from the actual mutation.
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This separation can cause false results.
Why would a lab use indirect testing if it’s less accurate?
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Mutation has not yet been discovered
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Researchers first narrow down the general area of the genome where the mutation likely exists.
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Indirect testing guides which dogs may have the disease but does not give the full picture.
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Once the mutation is found, the test can be updated to a direct test.
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Technical limitations of the laboratory
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Some labs cannot detect certain types of mutations or design tests for the precise mutation.
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They use indirect testing as a workaround.
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Examples of indirect tests include:
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Chondrodystrophy and Intervertebral Disc Disease (CDDY/IVDD)
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Furnishings (Imperfect Coat)
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I-Locus (Intensity)
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Hairlessness (FOX13)
These tests cannot be 100% accurate, because they do not detect the actual disease-causing mutation.
Risks of Indirect Testing
Indirect testing can lead to:
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Maintaining a disease or unwanted coat mutation in a breeding program
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Producing puppies with the disease or unwanted coat
This is why direct testing is always the best option when the actual mutation is known.
How GenSol Ensures Accuracy
At GenSol, every test is done using direct testing.
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We only detect mutations scientifically proven to cause the disease or coat trait.
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Accurate results start with testing for the correct mutation.
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We do not use indirect testing found in early-stage research.
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Our technology allows us to test for any mutation, unlike some companies limited by older methods.
We use science and innovation to deliver the most accurate results, helping you make the best breeding and health decisions.
Always check with your genetic test provider to determine the type of testing they use, and contact us if you have questions.