Cat

Progressive retinal atrophy (PRA) linked to the AIPL1 gene is a hereditary genetic disease described in Persian cats. It causes rapid degeneration of retinal photoreceptors, with the onset of cell loss as early as 5 weeks of age and severe involvement by 16 weeks. The first clinical signs include an early decrease in night vision, followed by loss of daytime vision.

GM1 gangliosidosis is a fatal genetic disease caused by a deficiency of the enzyme β-galactosidase. This enzyme normally helps break down certain complex lipids called gangliosides, particularly GM1 ganglioside. In the absence of this enzyme, these compounds progressively accumulate within cells, especially in nervous tissue. The disease generally manifests around the age of 3 months and reaches its terminal stage at around 9 to 10 months, with the onset of blindness and epileptiform seizures. Affected animals exhibit an unsteady gait, loss of coordination, tremors, and progressive muscle weakness, leading to severe neurological decline.

In domestic cats, the common blood groups are A and B; a third rare blood group, AB, is also known. This terminology is confusing because type AB is not the result of the presence of both blood groups A and B. A genetic mutation associated with blood group B in most cats has been identified. Genetic testing therefore makes it possible to determine whether a cat is bb (blood group B), Ab (carrier of the b allele with blood group A or AB), or AA (blood type A or AB). This test is particularly important in cats because of neonatal isoerythrolysis. Indeed, the colostrum of a mother with blood group B can kill a kitten if it belongs to blood group A or AB.

This test analyzes mutations specific to the Neva Masquerade breed and is not valid for other breeds.

In domestic cats the common blood types are A and B, a third rare blood type AB is also known. This name is confusing as type AB is not the result of the presence of blood types A and B. A genetic mutation associated with blood group B in most cats has been identified. The genetic test can therefore determine whether a cat is bb (blood type B), Ab (blood type A or AB and carrier of the b allele) or AA (blood type A or AB). This test is particularly important in cats because of neonatal isoerythrolysis. The colostrum of a mother with blood group B can kill the kitten if it is of blood group A or AB.

This test analyzes mutations specific to the Turkish Angora breed and is not valid for other breeds.

In domestic cats, the most common blood groups are A and B, while a third rare blood group, AB, is also recognized. This terminology can be confusing because type AB is not the result of a combination of groups A and B.

In Ragdoll cats, three genetic mutations allow determination of the blood group as well as the cat’s status regarding the b allele. This test is particularly important due to the risk of neonatal isoerythrolysis: the colostrum of a mother with blood group B can be fatal to a kitten with blood group A or AB.

This test analyzes mutations specific to the Ragdoll breed and is not applicable to other breeds.

Frontonasal dysplasia (also known as the Burmese head defect) is a hereditary disease in Burmese cats caused by a mutation in the ALX1 gene. Cats with two copies of the variant (homozygous) are born with severe craniofacial defects, including missing midline facial structures, duplicated teeth and whisker fields, brain protrusion (meningoencephalocele), and eye degeneration; affected kittens cannot survive and require euthanasia. Cats with one copy (heterozygous) show a brachycephalic head type.

Ce profil reprend les analyses spécifiques à effectuer chez le Bombay: la gangliosidose 2 (CAT-GM2), l'hypokalémie (CAT-HK) et les anomalies Crânio-Faciales (CAT-BHD).

GM2 gangliosidosis is an inherited disease caused by a deficiency of the enzyme β-hexosaminidase, leading to the accumulation of GM2 gangliosides in the nervous system.
In Korat cats, the first signs appear as early as 4 to 6 weeks of age with fine head tremors.
The disease progresses quickly with coordination problems, falls, and abnormal gait.
Affected kittens show severe deterioration over the following months.
Sadly, the outcome is fatal before 8 months of age.

This panel includes the specific tests to be performed in Bengal: pyruvate kinase deficiency (CAT-PKDef), Progressive retinal atrophy - Bengal (CAT-PRA-BEN) and Progressive retinal atrophy - rdAc (CAT-PRA-RDAC).

This profile includes the specific tests to be performed in the Scottish Fold: polycystic kidney disease (CAT-PKD), Fold mutation (CAT-FOLD) and blood type determination (CAT-BLOOD).