Autoimmune lymphoproliferative syndrome (ALPS) is a well-known disease in humans. In the early 1990s, first cats showing comparable symptoms were detected in Australia. The affected British Shorthair kittens suffered from a massive lymphadenopathy 6 to 8 weeks after birth. Complete genomic sequencing was used to identify the causal variant responsible for the disease. It was found in the FASL gene, which plays an important role in lymphocyte apoptosis. The mutation impairs triggering of lymphocyte apoptosis and thus leads to T-lymphocyte accumulation in lymph nodes and spleen. So far, the mutation was exclusively detected in consanguineous British Shorthair Cats from Australia and New Zealand.
Test specific information
Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.
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
This disease is present in the entire body, but causes main effects in the internal organs such as stomach, intestinal tract, liver and / or kidneys. In a number of cases, the disease affects one major internal organ.
This DNA test is available for the following breeds: Brittish Shorthair.
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Semen, Swab, Tissue. Please contact PharmaDNA if you wish to submit other material as listed.
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.
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