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.

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).