Information courtesy of
Dr Chris Helps BSc PhD Senior Research Fellow Head of the Molecular Diagnostic UnitUniversity of Bristol |
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About the diseaseAutosomal dominant polycystic kidney disease (AD-PKD) is a common problem in Persian cats and related breeds, especially Chinchillas, Exotics and British Shorthairs. The Molecular Diagnostic Unit has been offering a genetic test to diagnose autosomal dominant polycystic kidney disease (AD-PKD) in cats since April 2005
About the testThis genetic test is a PCR and evaluations of the test have shown excellent agreement with the results of ultrasound screening. The test has revolutionised testing for AD-PKD.
Until recently specialist ultrasound scanning was been required for diagnosis, but the identification of a specific genetic mutation associated with feline AD-PKD means that PCR can now be used to identify affected cats.
Cats screened using our genetic test and found to be negative for the PKD mutation can be listed on the ICC PKD negative register.
The following graph shows the percentage of PKD affected cats detected by the Molecular Diagnostic Unit between 2005 and 2014. This clearly shows a decline in the percentage of cats testing positive for the AD-PKD genetic mutation, which is likely due to AD-PKD screening and selective breeding.
Interpretation of results:
About the testThis genetic test is a PCR and evaluations of the test have shown excellent agreement with the results of ultrasound screening. The test has revolutionised testing for AD-PKD.
Until recently specialist ultrasound scanning was been required for diagnosis, but the identification of a specific genetic mutation associated with feline AD-PKD means that PCR can now be used to identify affected cats.
Cats screened using our genetic test and found to be negative for the PKD mutation can be listed on the ICC PKD negative register.
The following graph shows the percentage of PKD affected cats detected by the Molecular Diagnostic Unit between 2005 and 2014. This clearly shows a decline in the percentage of cats testing positive for the AD-PKD genetic mutation, which is likely due to AD-PKD screening and selective breeding.
Interpretation of results:
- A Normal AD-PKD genetic test result means that the cat does not have the respective genetic mutation.
- An Affected AD-PKD genetic test result means that the cat has one normal and one mutant copy of the PKD1 gene. Presence of the mutant PKD1 gene has been strongly associated with polycystic kidney disease.