Primary hyperparathyroidism (PHPT) is a hereditary disease in which the regulation of calcium levels in the body is disturbed. Possible consequences are an increasing weakening of the bones, kidney problems and even kidney failure as well as other metabolic disorders.

A variant in the SIRT6 gene was found in the Wolfspitz/Keeshond that is associated with the disease. This is inherited in an autosomal dominant manner. The late onset of the disease is particularly challenging for breeders, as the symptoms of PHPT usually only become apparent after the age of 8 and therefore often at a time when the dogs have already been used for breeding. The genetic test enables early identification of affected animals and supports breeders and owners in responsible breeding selection and prevention.

The genetic test for Adult Onset Neuropathy (AON) is now available again! The test is carried out by a partner laboratory and is offered for the English Cocker Spaniel and Field Spaniel breeds.

AON is a hereditary disease whose symptoms are similar to those of degenerative myelopathy (DM). The first symptoms typically appear at the age of 7.5 to 9 years and are characterized by weakness of the hind legs, resulting in an uncoordinated gait and a wide-legged stance. As the disease progresses, the weakness spreads to the front legs and can eventually lead to difficulty swallowing.

Arterial thromboembolism (ATE) is a serious and often life-threatening complication in cats with hypertrophic cardiomyopathy (HCM) or other heart diseases. It occurs when a blood clot (thrombus) blocks an artery and thus interrupts the flow of blood to organs or limbs. The consequences are often severe tissue damage or infarctions.

Hypertrophic cardiomyopathy (HCM) is a genetic heart disease in which there is an abnormal thickening of the left ventricle. As this ventricle is responsible for the blood supply to the entire body, HCM can significantly impair the heart’s pumping capacity. This can result in a reduced oxygen supply to the organs.

The disease can have serious consequences, including cardiac arrhythmia, abnormal blood clotting (risk of thrombosis) and heart failure. The clinical symptoms are highly variable and range from reduced exercise tolerance and breathing difficulties to fainting or collapse.

A genetic variant in the TNNI3 gene associated with HCM has been identified in a family of Golden Retrievers. The disease is believed to be inherited in an autosomal recessive manner and, in the worst case, can lead to sudden cardiac death.

Cerebellar abiotrophy (CA) is a hereditary neurological disorder that causes changes in the cerebellum, which is particularly responsible for movement coordination and balance.

Two genetic risk markers associated with CA have been identified in the Australian Kelpie. Clinical manifestations of the disease include pronounced ataxia, head tremor, a wide-legged stance of the hind limbs and a conspicuous gait pattern in which the legs are raised excessively when walking.

One variant affects the LINGO3 gene and is inherited in an autosomal recessive manner with incomplete penetrance. The first symptoms of this variant can appear as early as 4 to 10 weeks of age, although the severity of the symptoms can vary greatly. The second variant in the VPM1 gene shows a later onset of the disease (from about 4-6 months or older) and follows an autosomal recessive inheritance with complete penetrance.
Genetic testing makes it possible to identify carrier animals at an early stage and make well-founded breeding decisions.

Glycogen storage diseases (GSDs) are hereditary metabolic disorders in which too much glycogen is stored in various tissues due to faulty enzymes. A genetic variant in the RBCK1 gene was discovered in the Basset Hound, which leads to the formation of so-called polyglucosan storage bodies and can cause serious health problems. Affected dogs often initially show chronic vomiting and diarrhea, usually from around 8 to 12 months of age. Later on, progressive muscle weakness, exercise intolerance and serious heart problems with heart failure and even sudden cardiac death can occur.

As the disease progresses gradually and often causes only minimal changes in blood values at the beginning, genetic testing can provide valuable information for the diagnosis. In addition, carrier animals can be identified at an early stage using the genetic test, which is of great importance for responsible breeding planning.

Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats. This causes the muscles of the left ventricle to thicken, making it harder for the heart to fill. This can lead to poor performance, shortness of breath, blood clots and, in the worst case, sudden cardiac death.

In addition to ultrasound examinations, specific genetic tests are available for some breeds: The HCM1 variant in the MYBPC3 gene has been described in the Maine Coon, the HCM3 variant in the MYBPC3 gene in the Ragdoll and the HCM4 variant in the ALMS1 gene in the Sphynx. These variants are considered high-risk factors that can provide an indication of the development of the disease even before the clinical signs appear. Nevertheless, severe, symptomatic forms of the disease usually only develop in combination with other genetic or environmental factors – a reliable prognosis of the clinical course is therefore not possible on the basis of genetic analyses alone. In addition, these are very breed-specific variants for which a correlation with the occurrence of the disease could only be proven in the breeds described in each case.

The evaluation of the samples submitted to us between 2012 and 2022 showed a significant decrease in the HCM3 allele frequency within the Ragdoll breed from 28.6 % to 4.3 %, which is probably due to breeding efforts. The current distribution of genotypes in the Ragdoll can be seen in the diagram opposite. In addition, we tested around 28,000 cats of various breeds – in particular British Shorthair, Maine Coon and Persian – for the Ragdoll variant HCM3. Outside of the Ragdoll breed, it only occurred in negligible numbers, although it is unclear whether there is a correlation with clinical symptoms. We therefore continue to recommend the HCM3 test exclusively for the Ragdoll breed.

The ridge – the distinctive ridge running against the direction of the coat – is one of the characteristic features of the Rhodesian Ridgeback breed. The appearance of the Ridge is clearly defined by the respective breed standards.

The development of the ridge is caused by a genetic variant on chromosome 18. This is a duplication of an approx. 100 kb long DNA section. The variant follows an autosomal dominant inheritance with incomplete penetrance: in heterozygous dogs with the R/r genotype, around 95% carry a ridge, while in around 5% of dogs the dominant R allele is silenced, meaning that these dogs do not have a ridge.

The genetic test can be used to determine whether the ridge gene is heterozygous (R/r) or homozygous (R/R). The genotypes of the mating partners can be used to predict whether puppies without a ridge can be expected in the offspring.

Our tip: We also offer a new practical Ridge + Dermoidsinus (DS) combination package!

We offer a new genetic test for Freiberger that can be used to identify carriers and affected animals of hypertriglyceridemia-induced pancreatitis (HIP).

The disease is a hereditary metabolic defect. The HIP gene variant causes the loss of function of an important enzyme in fat metabolism, which ensures that absorbed fats are processed. Without this enzyme, there is a harmful accumulation of fat in the blood, which in turn leads to acute inflammation of the pancreas.

Affected foals suffer from loss of appetite, diarrhea, fever and apathy. As a rule, foals die in the first few weeks of life or have to be euthanized.

HIP is inherited in an autosomal recessive manner. This means that a foal is only affected if it has received an affected gene from both its sire and dam. This means that both the sire and dam must carry the mutated gene. Carrier animals themselves are clinically completely inconspicuous, but have a 50% probability of passing on the inherited trait to their offspring. When mating two carriers, there is a risk that the offspring will be affected by the disease (25%). Therefore, a carrier should never be mated with another carrier. Genetic testing is the only way to avoid such mating.