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X-linked hypohidrotic ectodermal dysplasia is a disease characterised by missing or malformed teeth and absent sweat glands. The disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.

Neuronal ceroid lipofuscinosis is a genetic defect characterised by cognitive impairment, blindness and anxiety.

Retinal Dysplasia with Osteoskeletal Dysplasia (OSD1) is a genetic disease that affects collagen in Labrador Retrievers. It manifests itself as dwarfism with short limbs, especially the front legs, as well as ocular abnormalities such as retinal detachment and cataracts.

Affected dogs show signs as early as 4 to 6 weeks of age, with shortened and deformed front legs, a sometimes bulging skull and slightly squinty eyes. Eye lesions include retinal detachment and cataracts, while bone growth plates are poorly organised.

The disease is caused by a mutation that prevents the correct production of collagen, affecting the eyes more severely than the bones. Carriers of the mutation generally do not have bone problems, but may have mild eye damage.

Myotubular myopathy type 1, also known as X-linked myotubular myopathy, is a genetic disease of the skeletal muscles. Clinical signs include hypotonia, muscle atrophy and breathing difficulties. The disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.

Sex-linked orange coat colour in cats is associated with an approximately 5 kb deletion in the ARHGAP36 gene, located on the X chromosome. This variant causes abnormal ARHGAP36 expression in melanocytes, reducing the production of eumelanin, the black-brown pigment, and promoting pheomelanin, which is responsible for orange coloration. Males, which have only one X chromosome, are orange when they carry the O variant, whereas they do not show this colour when the variant is absent. In females, two copies of the variant produce an orange coat, while a single copy leads to mosaic expression of orange and non-orange areas, resulting in tortoiseshell or calico coat patterns.

Haemophilia B, also known as factor IX deficiency, is a bleeding disorder. The clinical signs are haematomas and excessive bleeding due to the absence of functional coagulation factor IX.  he disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.

Hypomyelination, also known as Shaking pup syndrome, is a disorder of the nervous system caused by a defect in the myelination of the spinal cord. Affected dogs show tremors, walking difficulties, balance and coordination problems. This disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.

Golden Retriever muscular dystrophy is a homologue of Duchenne muscular dystrophy in humans. Affected dogs develop clinical signs at 8 to 10 weeks of age. Symptoms include a shuffling gait, inability to fully open the jaw, difficulty eating, curvature of the spine and ribs, resulting in a squatted posture. he disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.

In donkeys, dominant white corresponds to complete depigmentation: the animal is born with a white coat, pink skin and dark eyes. A variant in the KIT gene, c.662A>C, was identified in a donkey showing this phenotype and is considered a candidate variant associated with dominant white. The genetic test can be used to detect this variant and identify animals that carry it. However, the available data remain preliminary, as this variant was observed in only one white donkey in the study.

This panel includes the essnetial tests to be performed for the Chihuahua: curly coat (DOG-CUR), intervertebral disc disease (DOG-IVDD) and neuronal ceroid lipofuscinosis type 7 (DOG-NCL7).