Background
During the last decades, a large number of scientific publications have described the genetic principles of coat colour and coat variation. Coat colours and coat variations are influenced by many hereditary factors. The DNA-tests are based on physiological effects in the body, in which the production and distribution of pigments result in many coat colour variants. In several cases, the coat colour of an animal may only be decided using DNA-tests.The R-spondin 2 (RSPO2) gene influences both the wiry texture and a growth pattern of the coat. The growth pattern of the coat, also known as ?furnishings?, increases hair growth on the face and legs and is typified by the canine moustache and eyebrows. The term "furnishings" refers to the longer mustache and eyebrows seen in wire-haired dogs and other breeds. In breeds such as the Portuguese Water Dog, Labradoodle and Goldendoodles furnishings can be variable, but are the breed standard. Portuguese Water Dogs without furnishings are referred to as having an "Improper Coat" which is characterized by short hair on the head, face and legs. The Improper Coat/Furnishings test (H848) tests for the genetic status of the RSPO2 gene. The RSPO2 gene has two variants (alleles). The allele N is dominant and results in ?furnishings?. Only when the dog has two copies of the recessive allele IC the dog does not have ?furnishings?. Some breeds, such as the Airedale Terrier, are fixed for the dominant allele N.
Test specific information
Since 2015, two brands have been developed. CombiGen? is mainly directed at veterinarian applications, whereas CombiBreed? is mainly directed at breeders and/or owners.Detailed information about Coat Colours and Coat Variation is presented at www.pharmaDNA.com.
Age
The genetic factor is continuously present, and will always be visible.
Throughput
Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.
Location of disease or trait
Genetic factors influencing coat colours and coat types are usually visible on the outside of an individual. Several factors may be hidden by the external variation.
Breed dependence
For this test samples from all breeds are accepted.
Sample type
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Tissue, Swab, Semen. Please contact PharmaDNA if you wish to submit other material as listed.
Result
An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.
Inheritance
This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous). Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.
Severity of Disease
Factors influencing coat colour and coat types are usually not related to diseases.
