Dog

Persistent Müllerian duct syndrome is an XY disorder of sexual development described in dogs, particularly in Miniature Schnauzers, and is associated with variants in the AMHR2 gene. Affected males generally have normal male external genitalia but retain structures derived from the Müllerian ducts, such as a uterus. Around half of affected dogs are cryptorchid, with a risk of complications such as Sertoli cell tumours or pyometra. Genetic testing is recommended before breeding, as affected males with descended testes may be fertile and carriers show no clinical signs.

Musladin-Lueke syndrome, also known as canine geleophysic dysplasia, is an inherited disorder described in Beagles and associated with the ADAMTSL2:c.661C>T variant. Affected dogs typically exhibit growth retardation, thick and taut skin, and severely restricted joint mobility. A broad skull, wide-set slanted eyes, creased ears, and a characteristic tip-toe gait may also be observed.

Van den Ende-Gupta syndrome is a congenital skeletal development disorder affecting Wire Fox Terriers. It is characterized notably by severe mandibular prognathism (forward lower jaw) and low bone mineralization. Affected animals frequently present with luxations, particularly of the patella and elbow.

This test is also recommended for the Welsh Terrier as part of the breeding program of the Flemish government (see the official program).

Dogs with POAG have elevated intraocular pressure that can lead to vision loss. Symptoms of this condition include eye pain, excessive blinking and tearing.

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Hereditary hyperkeratosis of the foot pads usually appears in dogs at 4–5 months of age and affects all foot pads. Over time, horny growths develop along the edges, and the pad surface becomes hard and cracked. Affected dogs tend to avoid uneven surfaces and may show lameness.

This test is also recommended for the Welsh Terrier as part of the Flemish government’s breeding program (see the official program).

Palmoplantar Keratoderma is a genetic condition that typically appears between 10 weeks and 1 year of age. Affected dogs develop painful thickening of the paw pads, with keratinous proliferations and fissures localized to the areas in contact with the ground. These fissures can lead to secondary infections and may cause lameness or reluctance to walk. The nails and other areas of the skin do not appear to be affected, and no other associated skin signs have been reported.

Imerslund-Gräsbeck syndrome is characterised by malabsorption of vitamin B12 (cobalamin). The first symptoms appear around 6 to 12 weeks. The clinical signs are due to the lack of cobalamin which causes megaloblastic anaemia and neurological symptoms.

Hypocatalasia (or acatalasemia) is a rare genetic disorder caused by a mutation in the CAT gene, leading to a severe deficiency of catalase. This enzyme normally protects tissues against oxidative stress. The c.979G>A (p.Ala327Thr) mutation was first identified in a Beagle colony and subsequently detected in pet Beagles. A homozygous dog notably developed oral cavity gangrene with tooth loss at a young age. The disease may remain clinically silent for a long time, which highlights the importance of genetic screening in breeding dogs.
This test is also recommended for the Basset Hound as part of the Flemish government breeding program (see the official program).

Multifocal CMR3 retinopathy is a genetic disease that causes multiple tears and detachments of the retina. In mild cases, the dog often shows no vision problems despite the abnormal appearance of the retina.