Dog

Hereditary Nasal Parakeratosis (HNPK) in Labradors is a genetic disorder affecting the corneal layer of the nasal epidermis. Affected dogs show a thickened, dry, and rough nose, often with crusts and fissures, appearing at a young age. Histologically, it is characterized by diffuse parakeratotic hyperkeratosis with retention of nuclei in the stratum corneum and accumulation of proteinaceous fluids. Despite these skin symptoms, Labradors are otherwise healthy. This genetic test is patented and performed by a licensed laboratory.

Collie Eye Anomaly (CEA) is a complex inherited eye disorder affecting mainly herding breeds with Collie ancestry. It results from abnormal development of the inner eye structures, particularly the vascular and retinal layers. Clinical expression is highly variable: some dogs remain asymptomatic, while others show choroidal hypoplasia, optic nerve coloboma, microphthalmia, intraocular hemorrhage, retinal detachment, and in severe cases visual impairment or blindness.
The genetic test based on the NHEJ1 deletion is a useful breeding tool, but it does not reliably predict clinical severity or the presence of coloboma, as other genetic factors are involved. Therefore, systematic ophthalmologic examination, especially in puppies, remains essential for breeders and veterinarians.

Osteochondrodysplasia is a skeletal developmental disorder that appears very early in puppies. It causes visible bone deformities, such as shortened or curved limbs, enlarged joints, a flattened rib cage, and sometimes a shortened lower jaw. Radiographs reveal abnormalities in ossification, particularly in the epiphyses and vertebrae. Affected puppies show marked joint stiffness that decreases with age, but mobility remains limited. In the long term, osteoarthritis is common and has a lasting impact on quality of life.

This test is also recommended for the Papillon and Bichon frisé as part of the Flemish government breeding program (see the official program).

Dental-Skeletal-Retinal Anomaly (DSRA) is a rare inherited disorder in dogs affecting the teeth, skeleton, and eyes. Affected dogs develop brittle, opaque or translucent teeth, often smaller than normal and prone to fractures. Skeletal growth abnormalities may be present, leading to disproportionate body structure. Ocular involvement includes progressive retinal atrophy (PRA), causing progressive vision loss that may ultimately result in blindness.

Paradoxical pseudomyotonia in dogs is a rare neuromuscular disorder characterized by transient episodes of generalized muscle stiffness, often triggered by intense exercise. Clinical signs typically appear before two years of age and occur during activities such as running, jumping, or climbing stairs. Episodes are usually brief and reversible, but their severity may vary between individuals. In more severe cases, respiratory involvement with apnea and cyanosis may occur, requiring increased clinical attention. Environmental conditions, particularly extreme temperatures, appear to exacerbate the frequency and severity of episodes.

Achromatopsia, also known as Early Cone Degeneration, causes daytime blindness due to degeneration of the retinal cones. It can be diagnosed in the first few weeks of a puppy's life. Affected dogs become colour blind and photophobic.

Von Willebrand disease is a condition that causes excessive bleeding due to a deficiency or reduced levels of von Willebrand factor (vWF), a blood clotting protein.

This mutation is found in the Chinese Crested dog, but homozygous dogs do not appear to show clinical signs of bleeding disorders.

Unilateral deafness associated with a vestibular syndrome is a genetic condition linked to an abnormality of the inner ear. It can result in hearing loss on one side as well as balance disorders.

The observed clinical signs include head tilt, circling movements, lack of limb coordination, and abnormal eye movements.

In the Doberman, a disease presenting similar symptoms has been described and is associated with a mutation of the MYO7A gene. For more information, please consult the page: DOG-DINGS.

Cerebral neuronal lipofuscinosis type 8 (NCL8) is a hereditary neurodegenerative disease observed in certain breeds such as the German Shorthaired Pointer and the Australian Shepherd. Puppies develop normally until 12–14 months of age, after which signs of neurological degeneration appear, including visual impairment, repetitive behaviors, and decreased responsiveness to commands. The disease progresses to blindness, ataxia, and loss of motor function in the limbs, accompanied by frequent epileptic seizures. Due to the severity of symptoms and rapid progression, affected animals are often euthanized before 27 months of age.

PRA associated with the BBS2 gene is a hereditary form of progressive retinal degeneration characterized by damage to photoreceptor cells, leading to gradual vision loss. This progressive condition typically begins with reduced night vision and advances to complete blindness, with a variable rate of progression between individuals. Ophthalmoscopic examination reveals typical signs of bilateral retinal degeneration, including retinal thinning and vascular changes. In advanced stages, secondary complications such as cataracts may develop.