Dog

Myotubular myopathy type 1, also known as X-linked myotubular myopathy, is a genetic disease of the skeletal muscles. Clinical signs include hypotonia, muscle atrophy and breathing difficulties. The disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.

Renal cystadenocarcinoma and nodular dermatofibrosis cause kidney tumours, uterine leiomyomas and skin nodules.

Dental hypomineralisation, also known as Raine's syndrome, is a condition that causes hypomineralisation of teeth and bones. Affected dogs show severe tooth wear, pulpitis, and as a result most teeth need to be extracted. The symptoms are hypomineralisation of the teeth and weakening of the enamel.

Brachyury, also known as bobtail, is a dominant mutation that is lethal in utero in the homozygous state (two copies of the bobtail mutation). This test also identifies whether the dog's tail is naturally short or whether it has been docked. The list of breeds for which the test is validated is shown below. In six other breeds studied, the short tail is not due to the mutation tested: Boston Terrier, English Bulldog, King Charles Spaniel, Miniature Schnauzer, Parson Russell Terrier, Rottweiler

This genetic disease is characterized by bilateral deafness in puppies with no other symptoms.

Autoinflammatory Shar-Pei Disease (AISD) is a genetic disorder characterized by recurrent episodes of fever and inflammation with no known cause. The most common symptoms are fever, arthritis, vesicular hyaluronosis, otitis and amyloidosis.

Dogs with photoreceptor dysplasia appear normal up to 10 months old but develop vision problems by 3 years, such as slow pupillary reflexes and difficulty seeing in familiar places. Fundus abnormalities include vessel loss and retinal thinning, leading to eventual blindness before age five.

Factor VII deficiency is a genetic disorder affecting blood clotting. Symptoms are related to mild blood clotting disorders such as bleeding and bruising.

Rod-cone dysplasia type 3 is one of the various forms of progressive retinal atrophy (PRA). This mutation leads to a progressive loss of night vision and subsequently daytime vision until total blindness.

Achromatopsia, also known as Early Cone Degeneration, causes daytime blindness due to degeneration of the retinal cones. It can be diagnosed in the first few weeks of a puppy's life. Affected dogs become colour blind and photophobic.