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DNA testing for health and appearance genes in dogs

Learn about one of the tests we do: Collie eye anomaly

Collie eye anomoaly (CEA) can cause total or partial blindness and occasionally bleeding inside the eye. It is also called choroidal hypoplasia.

The choroid is a layer of tissue under the retina with lots of blood vessels. In dogs with CEA it does not develop properly. In most cases the abnormal choroid is present at birth and can be seen in an eye examination at 4-8 weeks of age.

CEA is an autosomal recessive disorder. Autosomal disorders are equally likely to affect male or female dogs, while "recessive" means that a dog needs to inherit the CEA mutation from both its parents to be affected. Some dogs that inherit the CEA mutation from both parents are unaffected. This is why we categorise this test as a marker rather than a causative mutation.

Gene or region and technical reference

Gene: NHEJ1 (marker). Reference: Parker et al. (2017)

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