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Centronuclear Myopathy (CNM) is the common name for a range of hereditary muscular diseases which are characterised primarily by muscle weakness and muscle wasting. The variant analysed in this test, observed in the Border Collie, is known as ADCNM or as DNM2-CNM. It is caused by a dominant mutation to the gene DNM2.
Early Adult Onset Deafness (EAOD) is a hearing disorder in Border Collies. While age-related hearing loss typically begins around 8–10 years, EAOD has an early onset at 3–5 years. For working Border Collies, EAOD is particularly problematic, as even slight differences in tone perception are essential for their ability to perform tasks. Therefore, even moderate hearing loss can significantly impact their working ability, though it does not have other serious (medical) consequences.
We test four genetic variants that are risk factors for progressive deafness in Border Collies. These variants are found in three genes: the USP31 gene, which is involved in mitigating tissue damage in the ear, the HS3ST2 gene, which may play a role in brain function and the RBBP6 gene, which plays an important role in ear development.
Gradual hearing loss is observed in dogs between the ages of 3 and 5 years, affecting both ears. You may notice the following signs and behavioural changes in your dog: changes in sleep patterns, changes in barking, increased startle responses to environmental factors, disobedience and/or fewer greetings all.
Macular Corneal dystrophy (MCD) is an eye condition in Labrador Retrievers that causes the corneas to gradually become cloudy, leading to worsening vision. It is most likely caused by a recessive mutation in a comparative candidate gene (CHST6), which is also called LOC489707.
Multiocular Defect (MOD) is a hereditary ocular syndrome characterized by a variety of abnormalities, often affecting multiple parts of the eye. This condition is an autosomal dominant trait caused by a mutation in the COL11A1 gene, which is associated with the production of type XI collagen.
This MOD mutation has been observed in the Old English Sheepdog.
Neuronal Ceroid Lipofuscinosis (NCL) is a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, Neuronal Ceroid Lipofuscinosis type 8 (NCL8), occurs in the Australian Shepherd and German Shorthaired Pointer. It is caused by a recessive mutation to the Ceroid‑Lipofuscinosis, Neuronal 8 (CLN8) gene. Other breeds that carry mutations for NCL8 include the English Setter, Alpenländische Dachsbracke, and Saluki.
Von Willebrand disease II (vWD Type 2-2) is a hereditary bleeding disorder. It result from a lack or reduced level of a blood clotting protein called von Willebrand factor (vWF). The Age of onset is variable, some dogs only become obvious “bleeders” later in life.
Obesity is a common health concern in dogs. While factors like diet, exercise, and lifestyle all play important roles in a dog’s weight, genetics also have a significant influence.
A mutation in a gene called DENN Domain Containing 1B (DENND1B) seems to play a role as risk factor. This gene plays an important role in a brain signaling system that helps regulate appetite and energy balance (known as MC4R). When this system is disrupted, it can lead to increased hunger and reduced energy use, both of which promote weight gain.
Cerebellar Ataxia (CA) is a hereditary neurological disorder affecting the cerebellum, the part of the brain responsible for coordination, balance, and fine motor control. In Flat-Coated Retrievers, the condition is associated with a genetic variant that disrupts normal neuronal function within the cerebellum, leading to impaired signal transmission between nerve cells. As a result, affected dogs progressively lose the ability to coordinate voluntary movements. The disorder is inherited in an autosomal recessive manner, meaning dogs must inherit two copies of the variant to develop clinical signs. Onset typically occurs at a young age, and the disease is progressive over time.
Mushroom is a distinctive dilute coat colour characterized by a sepia-toned or taupe body, often accompanied by a flaxen mane and tail. The shade can vary widely between individuals and may resemble other dilutions such as cream or silver, though it is genetically unrelated to either.
This unique colouration is caused by an autosomal recessive mutation in the major facilitator superfamily domain containing 12 (MFSD12) gene. The mutation specifically affects red/yellow pigment (phaeomelanin), leading to visible dilution primarily on chestnut-based horses.
The mushroom gene is most commonly found in Shetland Ponies, with lower frequency observed in Miniature Horses.
Pug Dog Encephalitis (PDE), also known as Necrotizing Meningoencephalitis (NME), is a severe neurological condition primarily affecting Pugs, though it has also been reported in other small breeds, such as the Maltese, Chihuahua, and Yorkshire Terrier. PDE is an autoimmune disease characterized by inflammation in the brain, leading to neurological symptoms. The condition is usually progressive and fatal. While the exact genetic cause is not fully understood, this test analyses a specific mutation in the Dog Leukocyte Antigen (DLA) gene associated with increased risk. This test is not a diagnostic tool but serves as risk factor.
Hereditary Nasal Parakeratosis (HNPK) is a hereditary skin disorder affecting the Labrador Retriever and related breeds. It is caused by a genetic defect that disrupts normal keratinization of the nasal skin, leading to an abnormal accumulation of keratin on the nose. The disorder is caused by a mutation in the SUV39H2 gene and is inherited in an autosomal recessive manner.
Progressive Retinal Atrophy (PRA) encompasses a group of hereditary retinal diseases that cause gradual vision loss due to degeneration of photoreceptor cells. The crd4-PRA variant, also known as cord1, is primarily found in Dachshunds (especially Miniature Longhaired) and English Springer Spaniels. It is caused by an autosomal recessive mutation in the retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1) gene.
Recent research has shown that RPGRIP1 alone may not be sufficient to cause disease. A second mutation in the MAP9 gene (microtubule-associated protein 9) acts as a modifier, accelerating disease onset when present alongside RPGRIP1.
Dogs affected by crd4-PRA (cone-rod dystrophy type 4) display a progressive degeneration of both cone and rod photoreceptor cells in the retina, leading to gradual vision loss. Early signs of visual impairment can appear as young as 10 to 12 weeks of age, especially in individuals carrying mutations in both RPGRIP1 and MAP9. Common symptoms include difficulty tracking moving objects, clumsiness, and night blindness. However, the age of onset and severity vary widely: some dogs may be blind by six months, while others retain functional vision well into their senior years. On average, signs of sight loss begin around five years of age. This variability is influenced by genetic modifiers such as MAP9, which can accelerate disease progression when present alongside RPGRIP1 mutations.
La distrofia de conos y bastones (CRD) es un trastorno de las células fotorreceptoras del ojo, que puede provocar ceguera de inicio temprano en los perros afectados. Esta variante del trastorno, la distrofia de conos y bastones, tipo 1 (crd1 o crd1-PRA) se encuentra en el American Staffordshire Terrier. Es causada por una mutación recesiva en el gen PDE6B. Una variante similar de la enfermedad, llamada crd2, ocurre en el Pit Bull Terrier.
Progressive retinal atrophy (PRA) is an autosomal recessive hereditary eye disorder leading to degeneration of the photoreceptor cells of the retina. The form of adult-onset PRA in the Basenji (Bas-PRA, SAG-related) is characterised by photoreceptor degeneration causing progressive vision loss, culminating in blindness. It is caused by a recessive mutation to the gene SAG.
La distrofia de conos y bastones (CRD, también conocida como crd-PRA) afecta a las células fotorreceptoras del ojo que participan tanto en la visión nocturna como en la diurna. Las células de la retina involucradas en la visión con poca luz, conocidas como bastones, se ven afectadas primero, lo que resulta en ceguera nocturna. Posteriormente, los fotorreceptores de luz brillante conocidos como conos, que son importantes para la visión del color, también se ven afectados, lo que resulta en un déficit visual diurno.
Esta variante de la crd, que se encuentra en el Teckel, es causada por una mutación recesiva en el gen NPHP4.
Hyposegmentation of Granulocytes (HG) in Australian Shepherds is caused by an autosomal recessive mutation in the LMBR1L gene. This mutation alters the morphology of the nucleus in granulocytes, a type of leukocyte (white blood cell). Normally, the nucleus of granulocytes has two to four segments, but with hyposegmentation, fewer segments are present.
HG can occur either primarily due to the mutation in the LMBR1L gene or secondarily as a result of other conditions, such as leukemia or radiation exposure.
Interestingly, HG in dogs presents a phenotype similar to Pelger-Huët anomaly (PH) in humans. However, dogs with primary HG do not appear to have an increased predisposition to infection or immunodeficiency. This means that primary HG itself does not require treatment.
Congenital Stationary Night Blindness 2 (CSNB2) is a genetic retinal disorder characterized by impaired vision in low light conditions. It is caused by an autosomal recessive mutation in the metabotropic glutamate receptor 6 (GRM6) gene, which is essential for transmitting visual signals from rod photoreceptors to ON-bipolar cells in the retina. The mutation disrupts signal transmission in dim light, resulting in night blindness despite a structurally normal eye.
This disorder is distinct from the Leopard Complex (LP)/Appaloosa-associated form of night blindness and was first identified in a Tennessee Walking Horse. The variant has since been reported in additional breeds.
Erythrocyte pyruvate kinase deficiency (PK deficiency) is a hereditary hemolytic anemia. It is caused by insufficient activity of a regulatory enzyme and results in instability and loss of red blood cells.
Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This early-onset variant of the disease, known as Early Retinal Degeneration (erd-PRA), is found in the Norwegian Elkhound Grey and Black. It is caused by a recessive mutation to the gene STK38L.
Progressive Retinal Atrophy (rdAc) in cats is caused by an autosomal recessive mutation in a gene called “centrosomal protein of 290 kDa” (CEP290). This gene encodes a protein important for the function of photoreceptor cells in the retina. The mutation leads to progressive retinal degeneration, which ultimately causes vision loss. It is also known as Retinal Degeneration II (RD2) or late-onset photoreceptor degeneration, and is found in many cat breeds.
