A number of tests are available for the German Spitz (Mittel). Two or more of these tests purchased as part of this bundle will be discounted.
- Progressive Retinal Atrophy associated with the NECAP1 gene
- Progressive retinal atrophy associated with the PRCD gene
- Von Willebrand Disease Type I associated with the VWD gene
Progressive Retinal Atrophy
Progressive retinal atrophy (PRA) is the most common form of inherited disease affecting the retina in dogs. Genetically different forms of PRA, caused by mutations in different genes, affect many breeds of dog with each form usually affecting one or a small number of breeds. PRA is characterised by progressive degeneration of the retina at the back of the eye and leads to vision loss and blindness.
This specific form of PRA is caused by a mutation in a gene called NECAP1 and is indistinguishable from other forms of PRA in other breeds. The average age of onset of clinical signs is around 4 years, but can be anything between 1 and 12 years. In humans, mutations in NECAP1 are associated with a condition known as early infantile epileptic encephalopathy (EIEE), and some patients show signs of retinal degeneration. Dogs homozygous for the NECAP1 variant do not show any other signs of disease, such as neurological, and it is currently though that PRA is the only symptom. There is no cure for this form of PRA, but using the DNA test to identify dogs that carry the mutation in NECAP1 will prevent further spread of this blinding condition in this lovely breed.
Progressive retinal atrophy (PRCD type)
Progressive Rod Cone Degeneration (PRCD) is a form of PRA and was one of the first PRAs for which a genetic variant was identified. PRCD is different than most forms of PRA in that the variant has been found in a large number and diverse range of breeds.
Von Willebrand Disease Type I
Von Willebrand Disease (vWD) is an inherited bleeding disorder caused by lack of von Willebrand factor protein (vWF). This protein circulates in the blood stream and must be present at the site of blood vessel injury in order to control bleeding from that vessel. Clinical signs of vWD ranged from mild to severe bleeding tendency.
There are three forms of vWD (types 1, 2 and 3) that are defined by the quantity and structure of VWF in the blood plasma. Type 1 is characterised by a low concentration of vWF, but it has a normal structure and clinical severity of the disease is variable. These dogs are unlikely to bleed spontaneously but may be prone to excessive bleeding when undergoing surgery or in injured.