Dog

Trapped neutrophil syndrome is an immune system disorder. Affected puppies suffer from chronic infections and developmental delays.

Hypomyelination, also known as Shaking pup syndrome, is a disorder of the nervous system caused by a defect in the myelination of the spinal cord. Affected dogs show tremors, walking difficulties, balance and coordination problems. This 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.

Skeletal Dysplasia 2 (SD2) is a genetic disorder causing mild disproportionate dwarfism. Affected dogs have short legs with normal proportions for the rest of the body. This mutation has incomplete penetrance: not all dogs with two copies of the defective gene will show signs of skeletal dysplasia.

Spongy degeneration with cerebellar ataxia 1 is a neurodegenerative disorder of the cerebellum. Affected puppies show ataxia with motor disorders, muscle spasms and loss of balance. Following the progression of symptoms, puppies are usually euthanised before 4 months of age.

Spongy degeneration with cerebellar ataxia 2 is a neurodegenerative disorder of the cerebellum. Affected puppies show ataxia with motor disorders, muscle spasms and loss of balance. Following the progression of symptoms, puppies are usually euthanised before 4 months of age.

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.