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Breed-Specific Questions, Answers, Tools and Resources

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Has Neuronal Ceroid Lipofuscinosis been detected in the English Setter population outside of a laboratory colony since the test for NCL8 was developed in 2014?  I'm well aware of the history of the disease which was first discovered in Norway in the 1950's, but after more than 40 years of having English Setters in the USA, I've never heard of a case in my breed here.  The test for NCL8 is available from a few American labs, but I think I'm one of the few who has used it (with Normal results from a dog with an imported sire having several Norwegian ancestors). In contrast, a number of European clubs either require or recommend the NCL8 test.  What is the current status of this disease?

Jane Burrows

The prevelance of NCL8 mutations in English Setter populations globally, is unknown. In part, this is due to there not being a centralised database collecting this information, or depending on the country, any collation of genetic or health test results. With panel testing being a common form of genetic testing, having all the possible (e.g. rare) variants included mean we might in future have a bit more information on the frequency of mutation and any impacts breeding strategies may have. As for why some countries include this test, it is typically down to input from the national breed clubs, researchers/veterinary advisors, test availability, and disease risk/severity. The breed relevance ratings IPFD uses is based on the availability of breed-specific research that indicates the variant being tested for is causal for the disease, not on it being "recommended" as that can vary depending on a number of population-specific factors. 

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