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Canine leukocyte adhesion deficiency (CLAD) is a lethal recessive autosomal immunodeficiency disease in Irish Setters. The condition of CLAD is characterized by recurrent infections, impaired wound healing and impaired leucocyte bactericidal activity. Puppies usually die very early from recurrent and multiple infections of the lungs and the skin. The signs are often confused with those of non-specific infections, making it difficult to diagnose the condition and to assess the extent of penetration of the mutant allele into the local population. The condition is characterized by a decreased production of b-2 integrin, a cell surface receptor that is critical for cell–cell and cell extracellular matrix interactions, due to the missense mutations in its gene (ITGB2).

Inheritance: autosomal recessive - read more

Mutation: ITGB2 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Canine multifocal retinopathy (CMR1) is an autosomal recessive genetic eye disorder similar to Best macular dystrophy in humans. Causative mutation in VMD2 gene generates a premature stop codon, which results in non-functional protein responsible for proper formation of pigment epithelium in retina. Typical clinical findings include multifocal areas of retinal elevation which progress to multifocal areas of outer retinal atrophy. In affected animals, the disease develops before 4 months of age and might progress slowly. Some affected animals do not show symptoms until later in life.

Inheritance: autosomal recessive - read more

Mutation: VMD2 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Canine multifocal retinopathy (CMR2) is an autosomal recessive genetic eye disorder similar to Best macular dystrophy in humans. Causative mutation in VMD2 gene generates a premature stop codon, which results in non-functional protein responsible for proper formation of pigment epithelium in retina. Typical clinical findings include multifocal areas of retinal elevation which progress to multifocal areas of outer retinal atrophy. In affected animals, the disease develops before 4 months of age and might progress slowly. Some affected animals do not show symptoms until later in life.

Inheritance: autosomal recessive - read more

Mutation: VMD2 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Canine multiple system degeneration (CMSD) is a fatal autosomal recessive hereditary disease. First clinical signs develop at 3 to 6 months of age, and include cranial intention tremors, cerebellar ataxia, goose stepping gait and infrequent falls. Clinical signs become more severe with the disease progression and include frequent falling episodes, akinesia and severe postural instability. Affected dogs are usually euthanized by 1-2 years of age.

Inheritance: autosomal recessive - read more

Mutation: SERAC1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here

Hereditary myopathy is a deficiency of type 2 muscular fibers. First clinical signs are evident as early as 3 to 4 month of age. Clinical features in male and female pups include hypotonia, generalized muscle weakness, abnormal postures, stiff hopping gait, exercise intolerance and increased collapse when exposed to cold. There is evidence of skeletal muscle atrophy, particularly involving muscles of the head and tendinous areflexia. In all reported cases, histopathological evaluation of muscle biopsies has demonstrated a characteristic centralization of myonuclei, often located in areas devoid of myofibrils with mitochondrial aggregation.

Inheritance: autosomal recessive - read more

Mutation: PTPLA gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Collie eye anomaly (CEA, Choroidal Hypoplasia-CH) is a hereditary eye disease in dogs, characterized by different level of impairment of the retina and choroid sclera that occurs during development of the eye. The inheritable disease is not progressive and the state after eye development remains stable. For this disease no drugs exist and it cannot be treated. The main symptom in affected dogs is hypoplasia (under development) of choroid, which is an important layer of the eye under the retina. In dogs with more extensive CEA disease the hypoplasia of retina or coloboma development may occur. The extent of this disease is different in each dog. Known symptoms range from mild to very severe that can lead to blindness.

Inheritance: autosomal recessive - read more

Mutation: NHEJ1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Most of canine retinal diseases with known causal mutations are rod-cone degenerations also known as progressive retinal atrophies (PRAs), which are characterized by progressive rod-led photoreceptor degenerations that is followed by cone photoreceptor demise. In contrast, cone-rod dystrophies are characterized by the relatively early loss of cone photoreceptors. Cone–rod dystrophy 1 (cord1 - PRA) is a retinal disease associated with RPGRIP1 gene first described in Dachshund. The earliest signs are detectable at approximately 6 months of age. By the 40th week of age, no photoreceptor function could be detected with ERG. One study reported that not all dogs homozygous for the mutation develop the disease, therefore it is speculated that other genetic factors may influence the disease. In all clinically affected dogs, mutation was found.

Inheritance: autosomal recessive - read more

Mutation: RPGRIP1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Most of canine retinal diseases with known causal mutations are rod-cone degenerations also known as progressive retinal atrophies (PRAs), which are characterized by progressive rod-led photoreceptor degeneration that is followed by cone photoreceptor demise. In contrast, cone-rod dystrophies are characterized by the relatively early loss of cone photoreceptors. Crd1 usually affects very young dogs (less than 1-year old) and causes severe photopic and scotopic visual impairment, which can progress to complete blindness in early adulthood. Mutation causing crd1 has been observed in American Staffordshire Terrier dogs. Because American Staffordshire Terrier dogs and American Pit Bull Terrier dogs are closely related breeds and are sometimes crossbred it is possible that the same mutation also appears at American Pit Bull Terrier dogs.

Inheritance: autosomal recessive - read more

Mutation: PDE6B gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Most of canine retinal diseases with known causal mutations are rod-cone degenerations also known as progressive retinal atrophies (PRAs), which are characterized by progressive rod-led photoreceptor degeneration that is followed by cone photoreceptor demise. In contrast, cone-rod dystrophies are characterized by the relatively early loss of cone photoreceptors and relative preservation of rod function. Cone-rod dystrophy 2 (cord2 - PRA) is a retinal disease associated with NPHP4 gene in Wirehaired Dachshund. First clinical signs can be detected already at the age of 5 weeks (reduced cone ERG response). Initial ophtalmoscopic changes are usually diagnosed between the age of 10 months to 3 years.

Inheritance: autosomal recessive - read more

Mutation: NPHP4 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Congenital myasthenic syndrome (CMS) is a neuromuscular disorder characterized by severe generalized skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction. The disease usually occurs in animals between 6 to 12 weeks of age. In Old Danish Pointing Dog affected dogs are able to run normally for 5-30 minutes after which they take shorter and shorter strides and eventually fall down with flexed fore- and hind legs. After some minutes rest, they are able to walk and run again.

Inheritance: autosomal recessive - read more

Mutation: COLQ gene (Labrador retriever) and CHAT gene (Old Danish Pointing Dog)

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Congenital Stationary Night Blindness is an eye disease with slow retinal degeneration that at first stage causes night blindness. Day vision in affected dogs ranges from normal vision to profound day blindness. The disease has a characteristic clinical phenotype, consisting of profound visual impairment present already at 5-6 weeks of age. Older dogs may show subtle retinal abnormalities indicative of a slowly progressive retinal degenerative process.

Inheritance: autosomal recessive - read more

Mutation: RPE65 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Congenital ichthyoses comprise a heterogeneous group of genodermatoses characterized by abnormal desquamation over the whole body. Different genodermatoses can occur in different dog breeds. In American Bulldog, dermatological signs include a generalised scaling (epidermal hyperplasia), dermal inflammation, erythema of the rostral muzzle with scaling and paw pad hyperkeratosis. Dermatological signs can be visible at as early as a few weeks of age.

Inheritance: autosomal recessive - read more

Mutation: NIPAL4 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Congenital ichthyoses comprise a heterogeneous group of genodermatoses characterized by abnormal desquamation over the whole body. Different genodermatoses can occur in different dog breeds. In Golden Retrievers, dermatological signs include a mild, moderate or severe generalised scaling, initially with small to large whitish scales that progress to blackish scales. The ventral glabrous skin can be hyperpigmented and rough. Dermatological signs can be visible at as early as a few weeks of age.

Inheritance: autosomal recessive - read more

Mutation: PNPLA1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Craniomandibular osteopathy (CMO) is an inherited disease that affects formation of bones, most notably those of a jaw. First signs usually appear between 4 to 8 months of age.  Typical signs include swelling of the jaw, periodical fever, lack of appetite, pain, difficulty opening the mouth and dysphagia.

The disease showed an autosomal dominant inheritance with incomplete penetrance. Dogs that are homozygous mutant (two copies of the mutation) have a higher risk to develop CMO. Dogs heterozygous for the mutation (one copy of the mutation) rarely develop clinical signs - they are classified at low risk.It is also possible that some of the clinically unaffected but genetically affected dogs actually had very mild cases of CMO that is sometime unnoticed. 

Inheritance: autosomal dominant (incomplete penetrance) - read more

Mutation: SLC37A2 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Cystinuria is an inherited metabolic defect of amino acid transport in which cysteine, ornithine, lysine, and arginine are transported abnormally in kidneys and intestine. Normally cystine is filtered in renal glomerulus and then reabsorbed back to blood in tubules. This has an effect that only low concentration of cystine is found in urine. Dogs with cystinuria do not absorb cystine in kidney tubules therefore they have abnormally high urine concentrations of cystine. Cysine is not soluble in alkaline or neutral pH, therefore its excess in urine forms crystals that lead to formation of cystine stones in kidney or bladder. Affected dogs often have inflammation of urinary system and have increased risk for urinary blockage which leads to kidney failure, rupture of bladder and death if not treated immediately. The average age when first clinical symptoms are noted is 4.8 years, however in Newfoundland dogs uroliths causing clinical signs were evident as early as 4–6 months of age. Cystine, lysine, ornithine, and arginine levels in the urine of affected dogs were markedly increased, but were normal in obligate heterozygotes. In addition, renal clearance studies revealed normal cystine and dibasic amino acid reabsorption in the clinically normal relatives compared to failure of reabsorption (and even active cystine secretion) in affected Newfoundland dogs.

Inheritance: autosomal recessive - read more

Mutation: SLC3A1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Dental hypomineralization in Border Collie is autosomal recessive inherited disease that causes hypomineralization of teeth, leading to extensive wear, chronic inflammation and tooth loss. The genetic defect is relatively common in Border Collies with approximately 11% of carriers.

Inheritance: autosomal recessive - read more

Mutation: FAM20C gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Dermatomyositis (DMS) is an autoimmune disease of the skin and muscle caused by a combination of environmental and genetic factors. DMS typically develops following an environmental trigger, such as vaccination or viral infection, and is exacerbated by subsequent stressors like exposure to UV light. Consistent with an environmental trigger, age at onset is variable with many cases occurring between seven weeks and six months of age, but others not developing until well into adulthood. The earliest clinical signs of DMS are crusting and scaling on the face, ears, tail tip, and/or across the bony prominences of the limbs and feet. Alopecia and more extensive skin lesions may develop over time. Lesions persist for weeks to months, and may or may not chronically recur.

Recently three genes that are associated with DMS were identified. A 3-gene DNA test helps determine the likelihood of an individual dog developing DMS. Certain combinations of alleles at these three genes are associated with an increased risk for development of DMS, while other combinations are rarely observed in affected dogs. Since the appearance of DMS in a dog is due to a combination of genetic and environmental factors, some dogs with a high genetic risk may not be exposed to environmental triggers and never develop the disease.

It is recommended that breeding pairs are selected according to their genotypes at 3 tested genes. Ideally, matings that could produce puppies with high-risk genotypes should be avoided. The American Shetland Sheepdog Association published more information about the disease and the use of DNA test results on their website. They also provided DMS Genotype Calculator and Punnett Squares for breeders to use the test results to determine possible genotypes that might result from a particular breeding.

Familial dilated cardiomyopathy is a primary myocardial disease that can result in the development of congestive heart failure and sudden cardiac death. Doberman pinscher dog is one of the most commonly reported canine breeds with familial dilated cardiomyopathy. The disease is genetically heterogeneous and is inherited in an autosomal dominant manner. Recently Meurs et. al reported a mutation strongly associated with the development of dilated cardiomyopathy in Doberman pinschers. Mutation shows incomplete penetrance (68%) which means that there may be other genetic or environmental factors affecting development of the disease.

Inheritance: autosomal dominant with incomplete penetrance - read more

Mutation: PDK4 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

CKCSID or „dry eye curly coat" syndrome is an inherited disorder affecting in particular eyes, skin and nails. The disease manifests at birth, with further clinical signs evident in early life. Affected dog usually have congenitally abnormal coat (rough/curly), signs of keratoconjunctivitis sicca (KCS) from eyelid opening, and are usually smaller than littermates. In affected dog reduced production of aqueous tears and tear film result in a tacky mucoid or mucopurulent ocular discharge and ulceration of the cornea in severe cases. Persistent scale along the dorsal spine and flanks with a harsh, frizzy and alopecic coat is evident in the first few months of life, often causing the dog to scratch. Footpads are hyperkeratinised from young adulthood including nail growth abnormalities and intermittent sloughing, pain and lameness. Ventral abdominal skin becomes hyperpigmented and hyperkeratinised in adulthood. Affected dogs also tend to suffer increased dental disease.

Inheritance: autosomal recessive - read more

Mutation: FAM83H gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Ectodermal Dysplasia - Skin Fragility Syndrome (ED/SFS) is a painful, inherited disease in Chesapeake Bay Retriever. Affected dogs are born with a dysfunctional form of a protein important in linking adjacent skin cells together. Affected dogs have unusually fragile skin that is easily damaged during normal activity. Disease is recognized shortly after birth with pale, translucent skin on dog’s ears, feet, nose and mouth. ED/SFS is very painful disease and most affected dogs die in the neonatal period or are euthanized shortly after birth.

Inheritance: autosomal recessive - read more

Mutation: PKP1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Episodic falling syndrome (EFS) in Cavalier King Charles spaniels is a canine paroxysmal hypertonicity disorder. Episodes begin between fourteen weeks and four years of age and are triggered by exercise, stress, apprehension or excitement. Episodes are characterized by progressive hypertonicity throughout the thoracic and pelvic limbs, which can lead to immobilization and collapse. Other clinical signs may include facial muscle stiffness, stumbling, a 'bunny-hopping' gait and arching of the back.

Inheritance: autosomal recessive - read more

Mutation: BCAN gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

EIC is a newly characterized syndrome affecting Labrador retrievers, especially dogs that are used for hunting and field trials. Five to fifteen minutes of strenuous exercise causes a dog to suffer from this condition and develops a ‘wobbly’ gait, which soon progresses to non-painful, flaccid paraparesis and a loss of control of the rear limbs. The episode may progress to all four limbs. Collapse episodes usually last for 5–10 min, and after 30 min there is often complete recovery, but episodes are occasionally fatal. The rectal temperature of dogs during an episode typically reaches 41.7 C (from a resting temperature of 39 C). Episodes occur more commonly in temperamental animals that are more excited under stress. However mild and moderate exercise (walking, swimming) are usually well tolerated and do not result in collapse.

Inheritance: autosomal recessive - read more

Mutation: DNM1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Factor VII (FVII) is a vitamin K-dependent coagulation factor. It is synthesized in the liver and secreted into the circulation. It plays a major role in initiation of blood coagulation. Factor VII deficiency is associated with a bleeding tendency. Clinical signs in affected dogs include mild to severe bleeding after trauma or surgery.

Inheritance: autosomal recessive - read more

Mutation: Coagulation factor VII gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Familiar nephropathy or hereditary nephropathy is an inherited disease causing kidney failure. The disease is the result of structural glomerular basement membrane (GBM) defects that alter mature kidney function. GBM is built of a network of collagen type IV molecules and mutation in any of collagen type IV gene can cause the disease. Affected dogs typically develop severe (end-stage) renal disease by the time they are 6 -24 months of age. The first clinical signs observed include excessive water consumption, excessive urine volume, reduced growth rate or weight loss, poor hair coat quality, vomiting and reduced appetite.

Inheritance: autosomal recessive - read more

Mutation:  COL4A4  gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Fanconi syndrome is a defect of proximal renal tubules affecting the resorption of glucose, amino acids, bicarbonate and other substances filtered by the glomeruli. Symptoms include excessive drinking (polydipsia), excessive urination (polyuria), and glucose in the urine (glucosuria.) If Fanconi syndrome is left untreated, muscle wasting, acidosis, and poor condition will occur and dog can die from the disorder.

Inheritance: autosomal recessive - read more

Mutation: FAN1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Fucosidosis is an inherited lysosomal storage disorder caused by a deficiency of the α-L-fucosidase enzyme. This enzyme is responsible for the removal of fucose sub-units from glycoconjugates. Affected dogs will have impaired central nervous system function, which can manifest as mental and motor deterioration, growth retardation and an increased inclination to recurrent infections. First significant symptoms usually manifest at approximately 12-17 months and severe decline in neurological function set in between 18-23 months of age.

Inheritance: autosomal recessive - read more

Mutation:  FUCA1  gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Gangliosidosis is an inherited error of lipid metabolism, also known as a 'lysosomal storage disease'. An autosomal recessively inherited deficiency of acid β-galactosidase activity affects brain and multiple systemic organs.

GM1- gangliosidosis in Siberian Husky affects brain, causing progressive neurological impairment. Affected dogs suffer from paralysis of the extremities and spasticity of the muscles. At the age of about 8 months, most dogs die of this disease.

Portuguese Water Dogs affected with GM1- gangliosidosis develop nervous system manifestations including ataxia, seizures and changes in temperament. They rarely survive beyond 6 months of age.

Shiba Inu dogs affected with GM1- gangliosidosis develop nervous system manifestations including vision loss, walking difficulties, loss of balance, head tremors, lethargy and weight loss. First symptoms appear around 5 to 6 months of age, by 9 to 12 months of age affected dogs are lethargic, have cloudy corneas, and may have involuntary muscle contractions. Dogs usually die by 15 months of age.

Inheritance: autosomal recessive - read more

Mutation: GLB1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Gangliosidosis is an inherited error of lipid metabolism, also known as a 'lysosomal storage disease'. An autosomal recessively inherited deficiency of acid β-galactosidase activity affects brain and multiple systemic organs.

Toy Poodle dogs affected with GM2- gangliosidosis develop nervous system clinical signs including vision loss, walking difficulties, loss of balance, head tremors and vomiting. First symptoms appear around 9 to 12 months of age, the disease progression is rapid and dogs usually die between the age of 18 and 23 months.

Inheritance: autosomal recessive - read more

Mutation: HEXB gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Globoid cell leukodystrophy (GLD), or Krabbe disease, is a severe disorder resulting from a deficiency of galactocerebrosidase (GALC) activity. GALC is responsible for the lysosomal catabolism of certain galactolipids. Clinically, the symptoms appear between 1 and 3 months of age. Weakness of the limbs and tremors appear first, followed by muscular atrophy and neurological degeneration. Affected dogs may live until 8 or 9 months of age, when the symptoms become so severe that the dog is usually euthanized.

Inheritance: autosomal recessive - read more

Mutation: GALC gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Glycogen storage diseases (GSD) are a group of autosomal recessive disorders of glycogen metabolism that occur in all species and result in glycogen accumulation in tissue and disturbed glucose homeostasis. The disease is characterized by a deficiency in glycogen debranching enzymes. Dogs affected with glycogen storage disease type II show esophageal dilation induced vomiting, progressive muscular weakness, clinical heart disease, and myocardial hypertrophy, the severity of which requires euthanasia at about 1.5 years of age.

Inheritance: autosomal recessive - read more

Mutation: GAA gene

Genetic test:  The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

The glycogen storage diseases (GSD) are a group of autosomal recessive disorders of glycogen metabolism that occur in all species and result in glycogen accumulation in tissue and disturbed glucose homeostasis. Clinical signs of disease vary, depending on severity of the enzyme defect, subcellular compartmentalization of the enzyme, and tissues in which the enzyme is normally expressed. The disease is characterized by a deficiency in glycogen debranching enzymes. Affected dogs show less symptoms in early life, but older animals suffer from lethargy and episodic hypoglycemia with collapse.

Inheritance: autosomal reccesive - read more

Mutation: AGL gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Golden Retriever Muscular Dystrophy (GRMD) is a degenerative muscular disease caused by defect in protein dystrophin. The disease is progressive, causes movement disorders and often ends with death. Genetic defect is located on chromosome x, therefore the disease is more often expressed in males as only one affected allele is needed for development of the disease. Females develop the disease only if they inherit two affected alleles. The same genetic defect in humans causes Duchenne muscular dystrophy. Typical clinical signs are muscular weakness, impaired walking, swallowing difficulty, excessive drooling, breathing difficulty and exercise intolerance. Affected dogs show elevated levels of serum creatine kinase, degeneration and mineralization of hyaline myofibrils, muscular fibrosis with fat infiltrations and cardiomyopathy. GRMD is usually expressed around 8 weeks of age. Dogs with severe form of the disease may not live past the first few days of diagnosis while dogs with milder form of the disease can survive several years.

Inheritance: X-linked recessive - read more

Mutation:  DMD gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: Regarding to the presence of tested mutation animals are classified in three groups:

• Affected- all males who carry a mutation and females with a mutation on both alleles
• Carrier- only females who carry a mutation on one allele
• Clear- mutation is not present, normal genotype                                           

For each group different breeding strategies should be followed. Breeding of affected and carrier animals should be avoided. All males who carry a mutation are affected. In order to eradicate the disease it is crucial to detect female carriers.

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Goniodysgenesis is a developmental abnormality of the anterior chamber of the eye. It is generally considered to be congenital in dogs and has been associated with developing glaucoma  in later years. It is marked by an abnormality in the ligaments that are in the eye. These strings block the openings through which the fluid (called aqueous humor) can drain from the eye. This increases pressure within the eye, damages the ganglion layer of retina and leads to blindness. Symptoms mostly appear in eye change: bloodshot look to the eye, shiny looking outside and cloudy inside, high sensitivity to light, raised third eyebrow, winking spasms, rubbing eyes, keeping eyes closed. The disease is painful and can lead to loss of appetite and less activity of the dog

Inheritance: autosomal recessive - read more

Mutation: OLFML3 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Cyclic neutropenia is a stem cell disease in which the number of neutrophils oscillates in weekly phases. Canine cyclic neutropenia is also known as grey collie syndrome, because it arose in Collie breed and affected dogs have hypopigmented coats.

Neutrophils are phagocytes, capable of ingesting microorganisms and some other particles. By this disease the number of neutrophils drops dramatically in a cyclical pattern, usually about every 10 to 12 days. During that time dogs have increased susceptibility to infection.

Affected dogs develop clinical signs very early in life. Affected puppies are usually smaller and weaker than their littermates. They have a noticeable pale grey, pinkish/grey or sometimes slightly yellow coat colour. By 8 to 12 weeks of age they develop clinical signs such as fever, diarrhoea, joint pain, or other signs associated with eye, respiratory, or skin infections. They are also prone to bleeding episodes. With proper treatment affected dogs can be kept alive, but few have lived beyond 2 to 3 years of age.

Inheritance: autosomal recessive - read more

Mutation: AP3B1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Cataract is one of the most common hereditary problems in Australian Shepherds and certainly the most common heritable eye disease of this breed. Typical clinical sign is opacity of the crystalline lens which leads to blindness. Primary/inherited form of the disease is found in around 100 dog breeds, but despite its frequency the genetic basis is poorly understood. To date only HSF4 gene was associated with hereditary cataracts in dogs and is also responsible for the development of the disease in Australian Shepherds, , Boston Terriers, Staffordshire Bull Terriers and French Bulldogs.

Inheritance of the disease is relatively complex due to its autosomal dominant mode and incomplete penetrance, which means that not all heterozygous animals develop the disease. Clinical manifestation varies considerably. Pathological changes develop on different parts of the lens, onset of the disease varies from young adulthood to brink of old age, and progression of the disease is also very variable. These facts indicate that other yet unknown genetic and environmental factors contribute to disease development. According to the scientific literature the probability of developing the disease is 17 times higher in HSF4 heterozygous animal comparing to HSF4 clear animal. The test cannot exclude other genetic defects which may be involved in the development of hereditary cataract in Australian Shepherds.

In Boston terriers, Staffordshire Bull Terriers and French Bulldogs we can find two kind of hereditary cataract. Early-onset hereditary cataract (EHC) affects dogs within few weeks of age, is always progressive and bilateral, and results in total blindness. Late-onset hereditary cataract (LHC) usually affects dogs over the age of 3 years and is more variable in its clinical phenotype, age of onset, progression, and the degree to which vision is impaired. The mutation in HSF4 gene has been reported only in dogs affected with EHC.

Inheritance: autosomal dominant (incomplete penetrance) - Australian Shepherd - read more;

                      autosomal recessive - Boston Terrier, Staffordshire Bull Terrier and French Bulldog - read more.

Mutation: HSF4 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: 

Australian Shepherd: Because disease is autosomal dominant with incomplete penetrance it will manifest itself in most of animals carrying at least on mutated gene. Such heterozygous animals will show clinical signs which will decrease their quality of life. With the intention of eradication of the disease it is not advisable to breed affected and carrier animals.

Other breeds: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Hereditary glomerulopathy in Samoyed resembles hereditary nephritis (HN) in man. Human and dog hereditary nephritis describes a group of inherited glomerular diseases of collagen type IV. The disease is inherited as an X-linked dominant trait. Affected males and carrier females spontaneously develop proteinuria, but only males progress to renal failure.

The clinical course of HN in studied Samoyed dogs showed proteinuria developed at 2 to 3 months of age. In affected males a decreased growth rate was detected after 3 months, dogs became progressively thinner, and died from renal failure by 15 months of age. In contrast, the only change noted in the appearance of carrier females as they became older was failure to achieve normal weight.

Inheritance: X-linked dominant - read more

Mutation: COL4A5 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Hyperuricosurie is a disease characterised by excessive excretion of uric acid into the urine, leading to formation of uric acid stones. The disease is caused by mutation G563T in SLC2A9 gene that codes for uric acid transport protein expressed in kidneys. The mutation was first discoverd in Dalmatian dogs. However in wider population screen it was also found frequently in Bulldog, Black Russian Terrier, American Staffordshire Terrier as well as retrievers. Mutation is present in many other breeds.

Inheritance: autosomal recessive - read more

Mutation: SLC2A9 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Imerslund-Gräsbeck syndrome is a vitamin B12 (also known as cobalamin) deficiency characterized by its malabsorption accompanied by selective proteinuria. Vitamin B12 is water-soluble vitamin, important for cell metabolism in higher organisms.

Affected dogs exhibit signs of cobalamin deficiency including failure-to-thrive, abnormal formation of blood cells, and methyl-malonic aciduria within 8–12 weeks of birth. Affected Border Collies also exhibit intermittent anorexia, chronic anaemia and neutropenia, poor weight gain, and poor muscle mass for several weeks or months. Severe metabolic dysregulation, including hepatic encephalopathy and/or ketoacidosis, occur in some cases.

Inheritance: autosomal recessive - read more

Mutation: CUBN gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Characteristic signs of centronuclear myopathies include generalized muscle weakness, atrophy, predominance of type I fibres, and aberrant cell positioning of nuclei and mitochondria. In Great Danes generalized muscle atrophy, exercise intolerance, exercise-induced tremor and muscle wasting characterize the disease. The disease typically starts before 10 months of age, is highly progressive, and most of the affected dogs are euthanized before 18 months of age due to severe debilitating muscle weakness.

Inheritance: autosomal recessive - read more

Mutation: BIN1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Epileptic seizures are a manifestation of excessive, hypersynchronous activity of neurons in the brain. Juvenile epilepsy in Lagotto Romagnolo is a hereditary disease with known genetic defect. Jokinnes et. al. reported that the affected dog began to exhibit abnormal signs at a range 5 to 9 weeks. Signs included seizures characterized by generalized tremor, ataxia, and stiffness. Seizures were independent of the time of the day (seizures occurred during sleep, during exercise or while playing with other puppies). The frequency of seizure episodes varied among puppies from multiple episodes per day to one episode per week. Seizures lasted from 10 seconds to a few minutes and consisted of whole body tremor (all limbs, body, and head were tremoring). Some puppies were sitting or lying during the seizure, but some dogs were able to walk during seizure episodes.

Inheritance: autosomal recessive - read more

Mutation: LGI2 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Juvenile Laryngeal Paralysis & Polyneuropathy (JLPP) of Black Russian Terriers is a juvenile-onset neuronal disease.  As the longest nerves are often affected first, laryngeal paralysis is usually the first change that can be seen. Symptoms include difficulties in breathing and swallowing, which can cause serious pneumonia. Back legs are affected next. Dogs have difficulties when getting up and wobble as they walk. As the disease progresses, dogs with JLPP can become unable to walk at all. Other symptoms include ocular changes and sensory ataxia.

Inheritance: autosomal recessive - read more

Mutation: RAB3GAP1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Juvenile myoclonic epilepsy (JME) is a breed-specific generalized myoclonic epilepsy with an early onset. It occurs in Rhodesian Ridgeback breed. The disease is characterized by myoclonic seizures, which cause rapid uncontrolled muscle jerks and twitches. Muscle jerks usually affect proximal limb, trunk, head and face. Seizures can occur at any time, most commonly when the dogs are sleeping or resting. Photosensitivity has also been noticed in affected dogs. The disease appears early in life, typical between 6 weeks to 18 months of age.

Inheritance: autosomal recessive - read more

Mutation: DIRAS1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

L-2-hydroxyglutaric aciduria (L-2-HGA) is a neurometabolic disorder characterised by accumulation of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. In healthy dogs L-2-hydroxyglutarate is metabolized to the 2-oxoglutarate (alpha-ketoglutarate), but in affected dogs L-2-HGA cannot be metabolised and is accumulated in their bodies. This leads to central nervous system damage that produces a variety of clinical neurological deficits, including psychomotor retardation, cerebellar ataxia, muscle stiffness, dementia and seizures (like epilepsy). Clinical signs in most cases become apparent between 6 months and one year.

Inheritance: autosomal recessive - read more

Mutation: L2HGDH gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Late Onset Ataxia (LOA) and Spinocerebellar Ataxia (SCA) in dog are progressive diseases of gait incoordination and loss of balance. Diseases gradually affect parts of nervous system in cerebellum, which coordinate movement.

Clinical signs of Late Onset Ataxia usually become notable between 6 and 12 months of age. During the initial months, disease is progressing rapidly. Walking becomes uncoordinated, affected dogs have problems with movement or in some cases can completely lose ability to move. In severe cases, the dog falls and can no longer be self-raising. At the later stages of disease, some dogs must be euthanized.

The symptoms are very similar to signs shown by dogs affected with Spinocerebellar Ataxia (SCA), so there may be confusion in identification of the disease.

Inheritance: autosomal recessive - read more

Mutation: CAPN1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Lysosomal storage disease (LSD) is an inherited autosomal recessive lysosomal storage disease. Defects in the cell’s degradation process cause various cellular materials to accumulate within the cells. This waste material affects nerve cell function, causing a progressive neurodegenerative disease. Progressive cerebellar ataxia is the main symptom in affected dogs, but episodic nystagmus (involuntary eye movement) can also manifest. Behavioral changes such as increased aggression or depression worsen as the disease progresses. First signs appear between 4 months and 4 years of age. Depending on how the disease develops, life expectancy can be mildly or severely affected.

Inheritance: autosomal recessive - read more

Mutation: ATG4D gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle elicited by exposure to volatile anesthetics and depolarizing muscle relaxants. The disorder is well recognized in humans and pigs, although a number of definite episodes have also been reported in dogs. When given above mentioned agents, MH-susceptible (MHS) dogs show tachycardia, hyperthermia, elevated carbon dioxide production, and death, if the anesthetic is not discontinued. Specific interventions, including use of the calcium release channel antagonist dantrolene, are efficacious in reversing signs of the canine syndrome. In most reports of MH in dogs, metabolic acidosis is moderate and muscle rigidity is minimal, in contrast to the severity of both in the swine or human condition.

Inheritance: autosomal dominant - read more

Mutation: RYR1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Mucopolysaccharidosis VII (MPS VII) in Brazilian Terrier is a part of a larger group of hereditary lysosomal storage diseases characterized by skeletal deformities, which arise due to deficiencies of lysosomal enzymes involved in the degradation of glycosaminoglycan (GAG) chains of the proteoglycans. Affected puppies are unable to walk and function properly. They present phenotypic characteristics like brachycephalic craniofacial morphology, dwarfism and deformed legs with crooked radiocarpal joints and prominent joint hyperlaxity especially in the hind limbs. Affected puppies show severe growth retardation. Clinical signs become evident within the first four weeks of life.

Inheritance: autosomal recessive - read more

Mutation:  GUSB  gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

The product of MDR1 gene is a protein responsible for transport of different substances across cell membrane. It is found in membranes of intestinal epithelial cells, proximal kidney tubules and liver hepatocytes. The action of this protein is connected to removal of certain molecules out of an organism through urine and bile. The protein is also found on a blood-brain boundary and is responsible for restriction of entry of such molecules into central nervous system. The protein is able to carry a wide spectrum of structurally unrelated drugs, toxins and xenobiotics as well as certain drugs commonly used in veterinary diagnostics. A mutation in MDR1 gene causes the production of non-functional protein which in turn causes sensitivity on certain drugs, especially ivermectin.

Clinical signs in animals with MDR1 gene mutation are expressed after application of certain drugs. Substances that have been shown to cross blood-brain barrier and cause severe symptoms are: ivermectin, doramectin, moksidectin and loperamid. The use of these drugs is discouraged in dogs shown to have MDR1 mutation. Change in pharmacokinetics has also been shown for certain drugs and a strict veterinarian monitoring of an animal is advised. These drugs include: cytostatics, immunosuppressives, digoxin, methyldigoxin, opioids (morphine), antiaritmics, antiemetics, antihystaminics and glucocorticoids.

Inheritance: autosomal recessive - read more

Mutation: MDR1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Muscular dystrophies are a group of inherited, degenerative disorders characterized by progressive muscular dysfunction. Clinical signs start at a few weeks of age, and lead to severe progressive muscle weakness that cause severe problems including problems with gait and standing. Genetic defect is located on chromosome x, therefore the disease is more often expressed in males as only one affected allele is needed for development of the disease. Females develop the disease only if they inherit two affected alleles. Affected puppies are usually euthanized.

Inheritance: X-linked recessive - read more

Mutation: DMD gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Muscular dystrophies are a group of inherited, degenerative disorders characterized by progressive muscular dysfunction. Clinical signs start at a few weeks of age, and lead to severe progressive muscle weakness that causes severe problems including problems with gait and standing. Affected dogs also suffer from joint pain. Affected puppies are usually euthanized at first year of age.

Inheritance: autosomal recessive - read more

Mutation: COL6A1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Musladin-Lueke Syndrome (MLS) is a hereditary disorder in Beagle dogs that affects the development and structure of connective tissue and manifests with extensive fibrosis of the skin and joints. The syndrome is multi-systemic and is involved in defects of multiple organs and tissues, including bone, heart, skin, and muscle. Current evidence suggests that dogs that have two copies of the mutant gene are affected with MLS, making the sindrom a recesive. However the severity of clinical signs can be variable. Dogs inheriting only one copy of the mutant gene can show subtle signs but do not appear to have health-related defects.

Inheritance: autosomal recessive - read more

Mutation: ADAMTSL2 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Heavily muscled Whippets, named ‘‘bully’’ Whippets, have broad chests and unusually well developed leg and neck musculature. ‘‘Bully’’ Whippets are easily distinguished from their normal littermates based on physical appearance alone.

The myostatin protein has been shown to have effect on muscle growth. Myostatin is a growth factor that restrains muscle growth, ensuring that muscles do not grow too large. Myostatin deficiency affects amount and composition of muscle fibres.

Myostatin deficiency is inherited as an autosomal recessive trait. Heterozygous dogs are more muscular than normal Whippets and show enhanced racing performance. Dogs with two copies of mutation (homozygotes for mutation) are called „bully" Whippets, and are extremely muscular dogs that are not suitable for races.

Inheritance: autosomal recessive - read more

Mutation: MSTN gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Myotonia congenita is an inherited condition characterized by delayed relaxation of skeletal muscle after voluntary contraction without associated symptoms of weakness or muscular dystrophy (Rhodes 1999). The delay in skeletal muscle relaxation is not accompanied by pain. This inherited pathogenic condition affects skeletal muscle because of poor voltage-dependent chloride channel CIC-1 conductance. This electrochemical disorder originates from a missense mutation in the canine CLCN1 gene.

Dogs affected with this disease have significant excessive growth of the muscles (muscle hypertrophy), non-painful muscle spasms, collapse associated with exercise and activity, so-called "bunnyhop" type movement which can be improved by training, noisy breathing (stridor), troubled breathing (dyspnea), problem with the voice (dysphonia)... Difficulty in swallowing, excessive salivation and an abnormal bark are often present. All affected miniature Schnauzers exhibit an abnormal set of teeth and have a deformed lower jaw, and sometimes abnormal barking. Young dogs start to show symptoms as early as of a few weeks of age.

Inheritance: autosomal recessive - read more

Mutation:  CLCN1  gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Narcolepsy is a disabling sleep disorder affecting different dog breads. It is characterized by daytime sleepiness, cataplexy, and striking transitions from wakefulness into rapid eye movement (REM) sleep. Dogs with narcolepsy exhibit cataplexy, sudden episodes of muscle weakness akin to REM sleep–associated atonia that are triggered primarily by positive emotions. Animals in narcoleptic state are almost without muscular tonus. The first signs of disease may be apparent as early as 4 weeks to 6 month of age. The frequency of episodes is specific for each animal, however the frequency of episodes in general is declining with age. Disease is inherited as autosomal recessive trait where mutations in OX2R gene have been shown to segregate perfectly with diseased individuals.

Inheritance: autosomal recessive - read more

Mutation: OX2R gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Neonatal cerebellar cortical degeneration (NCCD) is a neurodegenerative disease found in several canine breeds including Beagles. NCCD in Beagle is characterised by clinical signs of cerebellar dysfunction, such as ataxia, crossing of legs, uncoordinated movement, loss of balance and tremor of the head and legs. First symptoms appear at around 3 weeks of age when puppies normally develop coordinated movement. The majority of puppies affected with NCCD are euthanized shortly after diagnosing the first signs of this disease.

Inheritance: autosomal recessive - read more

Mutation: SPTBN2 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Neonatal cerebellar ataxia (BNAt, Bandera syndrome) is a disease affecting cerebellum (little brain) in Cotton de Tulear dogs. Clinical signs become apparent as soon as unaffected littermates develop coordinate movements. Affected animals exhibit head tremors and are unable to walk. They scoot around and often fall. Vision is unaffected but animals lack a menace response and exhibit ocular tremors.

Inheritance: autosomal recessive - read more

Mutation: GRM1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Neonatal encephalopathy (NE) is developmental brain disease of Standard Poodle. Affected puppies are small and weak. Puppies surviving first week develop ataxia and a whole-body tremor. Symptoms are progressively getting worse. The disease progression can be accompanied by severe generalized seizures and puppies die before seven weeks of age.

NE of Standard Poodles is caused by a mutation of ATF2 gene encoding activating transcription factor (ATF-2), which is involved in the regulation of a variety of cellular processes. It is required for normal development and function of the central nervous, respiratory, immune, reproductive, renal and skeletal systems. NE is caused by an ATF-2 deficiency as the mutation interferes with activation of ATF-2.

Inheritance: autosomal recessive - read more

Mutation: ATF2 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Neuroaxonal dystrophy (NAD) is an autosomal recessive genetic disease in Spanish water dogs and some other breeds. NAD is characterized by neurodegenerative pathology of the central and peripheral nervous system. Affected Spanish water dogs show various neurological deficits including gait abnormalities, behavioural deficits (dullness, nervousness…) and incontinence alone or in combination with uncontrolled defecation.

Hahn et. al. reported that NAD in Spanish water dogs is juvenile-onset. Neurological signs starting between six and eleven months of age. All affected dogs from the study were euthanized between 12 and 23 months of age.

Inheritance: autosomal recessive - read more

Mutation: TECPR2 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Neuroaxonal dystrophy (NAD) is an autosomal-recessive genetic disease in Papillon and some other breeds. NAD is characterized by neurodegenerative pathology of the central and peripheral nervous system in which swellings (spheroids) develop and accumulate along axons throughout the brain and spinal cord. Affected Papillons show various neurological deficits including gait abnormalities, ataxia, tremor, lack of coordination and various behavioural deficits. NAD in Papillon is juvenile-onset as neurological signs start as early as 6 weeks of age.

Inheritance: autosomal recessive - read more

Mutation: PLA2G6 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Neuronal ceroid lipofuscinoses (NCLs) are a group of heritable diseases characterized by progressive neuronal degeneration and accumulation of autofluorescent cytoplasmic inclusions in the brain, retina and other tissues. Clinical symptoms and progress of the disease include increased rates of irritability, with the possibility of outbursts of aggression, hallucinations, hyperactivity and seizures. Most animals lose their ability to coordinate everyday muscle activities. With the increased neurodegeneration affected dogs also develop psychological abnormalities and ataxia.

Inheritance: autosomal recessive - read more

Mutation: PPT1 (NCL-1) and TPP1 (NCL-2) gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Neuronal ceroid lipofuscinoses (NCLs) are a group of heritable diseases characterized by progressive neuronal degeneration and the accumulation of autofluorescent cytoplasmic inclusions in the brain, retina and other tissues. Clinical symptoms and progress of the disease include increased rates of irritability, with the possibility of outbursts of aggression, hallucinations, hyperactivity and seizures. Most animals lose their ability to coordinate everyday muscle activities. With the increased neurodegeneration affected dogs also develop psychological abnormalities and ataxia.

Inheritance: autosomal recessive - read more

Mutation: CTSD gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Neuronal ceroid lipofuscinoses (NCLs) are a group of heritable diseases characterized by progressive neuronal degeneration and accumulation of autofluorescent cytoplasmic inclusions in the brain, retina and other tissues. Clinical symptoms and progress of the disease include increased rates of irritability, with the possibility of outbursts of aggression, hallucinations, hyperactivity and seizures. Most animals lose their ability to coordinate everyday muscle activities. With the increased neurodegeneration affected dogs also develop psychological abnormalities and ataxia.

Inheritance: autosomal recessive - read more

Mutation: ARSG gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Neuronal ceroid lipofuscinoses (NCLs) are a group of heritable diseases characterized by progressive neuronal degeneration and accumulation of autofluorescent cytoplasmic inclusions in the brain, retina and other tissues. Clinical symptoms and progress of the disease include increased rates of irritability, with the possibility of outbursts of aggression, hallucinations, hyperactivity and seizures. Most animals lose their ability to coordinate everyday muscle activities. With the increased neurodegeneration affected dogs also develop psychological abnormalities and ataxia.

Inheritance: autosomal recessive - read more

Mutation: CLN5 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Neuronal ceroid lipofuscinoses (NCLs) are a group of heritable diseases characterized by progressive neuronal degeneration and the accumulation of autofluorescent cytoplasmic inclusions in the brain, retina and other tissues. Clinical symptoms and progress of the disease include increased rates of irritability, with the possibility of outbursts of aggression, hallucinations, hyperactivity and seizures. Most animals lose their ability to coordinate everyday muscle activities. With the increased neurodegeneration affected dogs also develop psychological abnormalities and ataxia.

Inheritance: autosomal recessive - read more

Mutation: CLN6 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Neuronal ceroid lipofuscinoses (NCLs) are a group of heritable diseases characterized by progressive neuronal degeneration and the accumulation of autofluorescent cytoplasmic inclusions in the brain, retina and other tissues. Clinical symptoms and progress of the disease include increased rates of irritability, with the possibility of outbursts of aggression, hallucinations, hyperactivity and seizures. Most animals lose their ability to coordinate everyday muscle activities. With the increased neurodegeneration affected dogs also develop psychological abnormalities and ataxia.

Inheritance: autosomal recessive - read more

Mutation: CLN8 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Neuronal ceroid lipofuscinoses (NCLs) are a group of heritable diseases characterized by progressive neuronal degeneration and accumulation of autofluorescent cytoplasmic inclusions in the brain, retina and other tissues. Clinical symptoms and progress of the disease include increased rates of irritability, with the possibility of outbursts of aggression, hallucinations, hyperactivity and seizures. Most animals lose their ability to coordinate everyday muscle activities. With the increased neurodegeneration affected dogs also develop psychological abnormalities and ataxia.

Inheritance: autosomal recessive - read more

Mutation: ATP13A2 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Neuronal ceroid lipofuscinoses (NCLs) are a group of heritable diseases characterized by progressive neuronal degeneration and the accumulation of autofluorescent cytoplasmic inclusions in the brain, retina and other tissues. Clinical symptoms and progress of the disease include increased rates of irritability, with the possibility of outbursts of aggression, hallucinations, hyperactivity and seizures. Most animals lose their ability to coordinate everyday muscle activities. With the increased neurodegeneration affected dogs also develop psychological abnormalities and ataxia.

Inheritance: autosomal recessive - read more

Mutation: CLN5 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Osteogenesis imperfecta (OI) is a hereditary autosomal recessive disease characterized by extremely fragile bones and teeth. Clinical signs include pain, spontaneous fractures of bones and teeth fractures, joint hyperlaxity and reduced bone density on radiography. Teeth are very thin and fragile, otherwise normal size. In affected dogs, clinical signs occur within the first few weeks of life. OI is characterized by significant reduction of the formation of bone and tooth mass (osteopenia and dentinopenia) due to a defect in the formation of collagen type I. Collagen type I represents 90% of the organic material of bones, tendons and teeth. While it gives structure and elasticity to these organs, the defects in collagen lead to fragility.

The reason for the OI occurrence in certain breeds of dogs are mutations in the genes encoding subunits of collagen I. While in Dachshunds, the cause of the OI is the mutation in the gene SERPINH1 involved in the formation of collagen I. The protein encoded by this gene is involved in the correct folding of the collagen triple helix. Defects of the highly organized structure of the collagen triple helix lead to osteogenesis imperfecta.

Inheritance: autosomal recessive - read more

Mutation: SERPINH1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Osteogenesis imperfecta (OI) is a hereditary disease characterized by extremely fragile bones and teeth. Clinical signs include pain, spontaneous fractures of bones and teeth fractures, joint hyperlaxity and reduced bone density on radiography. Teeth are very thin and fragile, otherwise normal size. In affected dogs, clinical signs occur within the first few weeks of life. OI is characterized by significant reduction of the formation of bone and tooth mass (osteopenia and dentinopenia) due to a defect in the formation of collagen type I. Collagen type I represents 90% of the organic material of bones, tendons and teeth. While it gives structure and elasticity to these organs, the defects in collagen lead to fragility. Osteogenesis imperfecta can range from mild to severe and symptoms vary from one dog to another.

Inheritance: autosomal dominant - read more

Mutation: COL1A1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Muscle type of phosphofructokinase deficiency is inherited disease of glycogen metabolism. It is caused by a nonsense mutation that terminates the synthesis of a fully functional protein, making it less stable. The protein lacks functional domain responsible for its activity. The affected dogs usually show the following clinical signs that are associated with inability of metabolizing glycogen: weakness, lethargy, exercise intolerance, poor performance, muscle cramps, anaemia, jaundice and dark-coloured urine.

Inheritance: autosomal recessive - read more

Mutation: M-PFK gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Pituitary dwarfism is a metabolic disorder that affects German shepherds, Saarloos Wolfdogs and Czechoslovakian Wolfdogs. Pituitary dwarfism is characterized by a combined deficiency of growth hormone, thyroid-stimulating hormone (TSH), prolactin, and gonadotropins. The hormone deficiencies can lead to a wide range of clinical manifestations, but the most common ones are marked growth retardation, retention of lanugo or secondary hairs with concurrent lack of primary or guard hairs, and bilateral symmetrical alopecia.

Inheritance: autosomal recessive - read more

Mutation: LHX3 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Polycystic Kidney Disease (PKD) in Bull Terrier is an inherited autosomal dominant disease. The mutation in PKD1 gene causes dogs to develop kidney cysts filled with fluid. These cysts grow in size and number as the diseases progresses, gradually replacing healthy kidney tissue with non-functional cysts and thus impairing renal function. Chronic renal failure appears in middle to old age and leads to death. Although renal cysts can be detected by ultrasound screening, it is difficult to establish a definite diagnosis, especially early in the disease course.

Inheritance: autosomal dominant - read more

Mutation: PKD1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Polyneuropathy in Alaskan Malamute (AMPn) is one of several known canine hereditary neuropathies. Typical clinical signs are exercise intolerance, inspiratory stridor and pelvic limb ataxia. Gait abnormalities progress to paraparesis, in some cases deteriorating to tetraparesis. Many of the affected dogs have difficulties with standing and walking up stairs and eventually they collapse. First signs are usually noticed at 7 to 18 months of age.

Inheritance: autosomal recessive - read more

Mutation: NDRG1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Polyneuropathy in Greyhounds is one of several known canine hereditary neuropathies. Juvenile form of polyneuropathy in Greyhound show dogs becomes clinically apparent between three to nine months of age. After clinical signs appear, none of the animals survive longer than ten months.

In the early stages of the disease clinical signs include exercise intolerance and walking difficulties such as high stepping gait and bunny hopping. In the later stages, the disease is characterized by severe muscle atrophy, ataxia and dysphonia. Neurological signs of affected dogs are progressive ataxia and tetraparesis, hyporeflexia, distal limb muscle atrophy, and inspiratory stridor.

Inheritance: autosomal recessive - read more

Mutation: NDRG1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Postoperative haemorrhage (P2Y12) is an inherited bleeding disorder in which platelet function is affected. Platelets are blood cells that are necessary for the normal clotting of blood. Affected dogs typically appear healthy but are at increased risk for spontaneous bleeding including excessive gingival bleeding during tooth eruption, nose bleeds and superficial skin bleeds. Severe bleeding occurs during surgery or after injuries and usually transfusion is needed.

Inheritance: autosomal recessive - read more

Mutation: P2Y12 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Primary open angle glaucoma (POAG) and primary lens luxation (PLL) are two different diseases in Shar pei that are caused by the same mutation. Primary open angle glaucoma (POAG) is a disease characterized by increased intraocular pressure, which causes retinal and optic disk destruction. As the pressure in the eye increases, the eyeball increases in size and becomes painful.  If POAG is left untreated, increased pressure in the eye leads to optic nerve damage and gradual loss of vision. 
Primary lens luxation is a spontaneous dislocation of the crystalline lens from the patellar fossa of the eye as a result of breakdown of the lens zonules. Dislocation of the crystalline lens leads to loss of vision. In most instances, PLL goes undetected until one of the lenses is grossly displaced from the patellar fossa. 
POAG-PLL in Shar pei occur as autosomal recessive traits. All affected dogs will develop POAG or PLL or both of them.

Inheritance: autosomal recessive - read more

Mutation: ADAMTS17 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by abnormally functioning cilia. The main clinical signs are recurrent or persistent respiratory infections because of the lack of effective ciliary motility. Other clinical signs include left-right body asymmetry due to disruption of embryonic development and impaired male fertility due to defects of the spermatozoa flagella.

Primary ciliary dyskinesia (PCD) is an early onset disease, as clinical signs can be seen at birth or short after birth. Affected dogs might be misdiagnosed as cases of aspiration pneumonia, or neonatal respiratory virus infection, which might contribute to an underestimation of the disease.

Inheritance: autosomal recessive - read more

Mutation: CCDC39 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Primary hyperoxaluria type I (PH I) is an autosomal recessive disorder of glyoxylate metabolism caused by a defective alanine-glyoxylate aminotransferase (AGT) enzyme. It is characterized by the accumulation of oxalate and subsequent precipitation of calcium oxalate crystals, primarily in the kidneys, leading to progressive kidney failure. In later stages of the disease, the crystals are accumulated in other tissues including muscles, retina, joints, cartilage and bones. Symptoms may include intense abdominal pain radiating to the groin, blood in the urine, and the passage of kidney stones.

Inheritance: autosomal recessive - read more

Mutation: AGXT gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Isolated ectopia lentis, known as primary lens luxation, has been recognized as a canine familial disorder for more than 75 years. PLL is encountered at high frequency in several terrier breeds and in some other breeds with probable terrier co-ancestry. In most instances, PLL goes undetected until one of the lenses is grossly displaced from the patellar fossa. Concurrent iridodonesis usually signals subluxation in the opposite eye. Gross displacement of the lens in the second eye often follows weeks or months later. Ultrastructure abnormalities of the zonular fibers are already evident at 20 months of age, long before the initial luxation that typically occurs when the dogs are 3 to 8 years old.

Inheritance: autosomal recessive - read more

Mutation: ADAMTS17 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Glaucomas represent a group of diseases characterized by increased intraocular pressure, which causes retinal and optic disk destruction. Primary open angle glaucoma (POAG) in Beagles is inherited condition with typically increased eye pressure in both eyes. Symptoms become detectable between 8 and 16 months of age. As the pressure in the eye increases, the eyeball increases in size and becomes painful. Symptoms include sudden onset of pain, redness, tearing, squinting and blinking of the eye. If POAG is left untreated, increased pressure in the eye leads to optic nerve damage and gradual loss of vision. Most dogs exhibit luxation of the lens by 2,5 years of age.

Inheritance: autosomal recessive - read more

Mutation: ADAMTS10 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Progressive retinal atrophy (PRA) is an inherited disease that occurs in many breeds of dogs and is reflected in various clinically indistinguishable forms. Progressive rod and cone degeneration in retina leads to progressive vision loss, which can end with total blindness. A form of PRA called CNGA1-PRA was described in Shetland sheepdog.  On average clinical signs become apparent at 5 years of age (2-11 years). The breed suffers from an additional form of retinal degeneration (SPR), that progresses more slowly and does not cause such obvious visual impairment as does PRA. Unfortunately, there is no genetic test for SPR yet.

Inheritance: autosomal recessive - read more

Mutation: CNGA1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Progressive retinal atrophy (PRA) in dogs is a group of genetically heterogeneous inherited retinal disorders characterized by progressive degeneration and cell death of photoreceptors. GR-PRA1 is a late onset disease (usually at 6 - 7 year) with some individual variation in age of onset, and is inherited in an autosomal recessive manner. Until now, three different mutations were found to cause progressive retinal atrophy (PRA) in Golden Retriever breed: PRA-PRCD, GR-PRA1 and GR-PRA2.

Inheritance: autosomal recessive - read more

Mutation:  SLC4A3  gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Progressive retinal atrophy is an inherited disease that occurs in many breeds of dogs and is reflected in various forms. Form of progressive degeneration of rods and cones is the photoreceptor degeneration in dogs and occurs at different ages. The genetic defect causes degeneration of the retina cells in the eye. First, rods are affected; therefore firstly the night blindness occurs. Subsequently impairment of cones occurs, resulting in complete blindness of animal in optimum lighting conditions such as daylight. The disease typically occurs in the early stage of childhood or early adulthood. However, the time of occurrence may be variable and depends on the breed of dog. Because the diagnosis of diseases of the retina is demanding, the genetic tests can help in the diagnosis of prcd-PRA.

Inheritance: autosomal recessive - read more

Mutation:  PRCD  gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Progressive retinal atrophy (PRA) is an inherited disease that occurs in many breeds of dogs and is reflected in various clinically indistinguishable forms. Progressive rod and cone degeneration in retina leads to progressive vision loss, which ends with total blindness. RCD4 is a form of PRA that was first described in Gordon Setters and later found in several other dog breeds. Gradual photoreceptor cell degeneration is typical for this form of the disease. Clinical signs usually become evident later in life (approx. 10 years of age).

Inheritance: autosomal recessive - read more

Mutation:  C2orf71 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Progressive retinal atrophy (PRA) in dogs is a group of genetically heterogeneous inherited retinal disorders characterized by progressive degeneration and cell death of photoreceptors. X-linked progressive retinal atrophy (XL PRA) is an X-linked form of retinitis pigmentosa. Affected dogs have normal retina at birth. The first clinical symptoms appear at 6 months. Rod light receptors begin to appear irregularly damaged, later cone damage arises, and at an age of 4 years affected dogs are usually completely blind. Symptoms include progressive deterioration of central vision, mild photophobia, and moderate to high myopia.

Inheritance: X-linked recessive - read more

Mutation: RPGR gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

A disease belongs to the group of a progressive retinal atrophy and it occurs at Irish setters. A rapid degeneration of the photoreceptor cells in the eye characterizes the disease. The first changes of the retina already occur two weeks after birth and they are already obvious one month after the birth. Until the age of one year, almost all off the photoreceptor cells (rods and plugs) are degenerated and that leads to the blindness. Population studies have shown that approximately 8% of the Irish Setters are carries for the disease.

Inheritance: autosomal recessive - read more

Mutation:  PDE6B1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Progressive retinal atrophy (PRA) in dogs is a group of genetically heterogeneous inherited retinal disorders characterized by progressive degeneration and cell death of photoreceptors. In Sloughi, PRA is inherited in an autosomal recessive manner. It is an early onset disease with some individual variation in age of onset. Disease progression is slow and dogs may or may not become completely blind.

Inheritance: autosomal recessive - read more

Mutation:  PDE6B gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

A disease represents one of the many forms of an inherited progressive retinal atrophy. This form of the disease occurs only at Rough and Smooth Collies. A progressive degeneration of the photoreceptors (rods and plugs) in the eye characterizes the disease. The first changes of a visual impairment appearing as the night blindness occur at the age of six weeks. Clinical signs are increasing and at the age of six or eight months, the dogs with rcd2 defect are functionally blind.

Inheritance: autosomal recessive - read more

Mutation:  RD3 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

A disease belongs to the group of a progressive retinal atrophy and it occurs at Cardigan Welsh Corgis. A progressive degeneration of the photoreceptor cells (rods and plugs) in the eye characterizes the disease, resulting in the blindness of young dogs already.

Inheritance: autosomal recessive - read more

Mutation:  PDE6A  gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Progressive retinal atrophy (PRA) in dogs is a group of genetically heterogeneous inherited retinal disorders characterized by progressive degeneration and cell death of photoreceptor. Progressive retinal atrophy 1 in Papillons and Phalenes is an autosomal recessive  PRA. Affected dogs have a primary loss of the rod photoreceptor cells, followed by loss of cone cell function. The first clinical signs are seen as difficulties in the dim light. The disease progress very slowly and the affected dogs seem to be visually normal throughout their life, as the cone function is fairly well preserved.

Inheritance: autosomal recessive - read more

Mutation:  CNGB1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Progressive retinal atrophy (PRA) in dogs is a group of genetically heterogeneous inherited retinal disorders characterized by progressive degeneration and death of photoreceptor cells. PRA in English Mastiffs and Bullmastiffs (AD-PRA) is an autosomal dominant disorder of rhodopsin, the visual pigment of rod photoreceptors. Rod vision can be normal early in life and degeneration slowly spreads. Degeneration of the retina can be identified in puppies at six weeks of age and at first causes night blindness. Night blindness progresses gradually to blindness and at the age of 1 to 2 years, most affected dogs are totally blind.

Inheritance: autosomal dominant - read more

Mutation:  RHO gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Progressive retinal atrophy (PRA) in dogs is a group of genetically heterogeneous inherited retinal disorders characterized by progressive degeneration and death of photoreceptor cells. PRA in Basenji (Bas-PRA) is late onset version of PRA as the first signs occur at the age of 5 to 7 years. First signs are visual loss in dim light (night blindness), which gradually progresses to total blindness.

Inheritance: autosomal recessive - read more

Mutation: S-antigen (SAG) gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Protein Losing Nephropathy (PLN) is a hereditary kidney disorder that causes protein leakage into urine. PLN is a late onset disease with mean age = 6.3 ± 2.0 years. Because of the late onset of the disease, dogs are usually bred before diagnosis, and therefore they transmit mutated gene to their offspring.

PLN is genetically complex disease and several different genes and environmental factors can contribute to the onset of symptoms. Clinical signs include weight loss and fatigue. The condition is progressive, resulting in symptoms of kidney disease such as increased drinking (polydipsia), increased urination (polyuria), decreased appetite, nausea, and vomiting. Complications include hypertension, thromboembolic events and renal failure. In early stages of the disease PLN can be misdiagnosed as liver, gland or other kidney diseases.

Genetic test for PLN detects two different mutations on two different genes. Dogs homozygous for both mutations are at significantly increased risk to develop PLN. Dogs heterozygous for both mutations appear at intermediate risk. It is possible that other environmental and genetic triggers are necessary for development of the disease. Dogs lacking the predisposing alleles may develop PLN due to infectious, inflammatory, immunemediated, neoplastic, or other causes.

Inheritance: autosomal recessive - read more

Mutation: KIRREL2 and NPHS1 genes

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Pyruvate Kinase Deficiency (PKD) is an inherited metabolic disorder caused by the absence of pyruvate kinase in red blood cells, which affects their survival. Pyruvate kinase is an enzyme responsible for glycolysis and cell energy production in erythrocytes. A deficiency in pyruvate kinase results in decreased red blood cell energy levels, which can lead to cell death. Red blood cells deliver oxygen to tissues around the body. Affected dogs are unable to maintain adequate supply of red blood cells and they suffer from chronical anemia.

Symptoms of PKD usually begin to show four months to one year after birth and include weakness, lack of energy, rapid heart rate, heart murmurs, pale gums, and stunted growth. As the disease progresses, bones and the liver can be affected, and the disease is ultimately fatal. Dogs with PKD commonly die before 4 years of age.

Inheritance: autosomal recessive - read more

Mutation: PK-LR gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Exercise intolerance syndromes in humans and animals are well known to be associated with inborn errors of metabolism affecting glycolysis and fatty acid oxidation. PDP1 is a hereditary disease in Clumber and Sussex Spaniels. Disease is caused by deficiency of pyruvate dehydrogenase phosphatase 1, an enzyme that activates the pyruvate dehydrogenase complex. This enzyme complex is presented in every cell of the body and is involved in energy production.

PDP1 deficiency in Clumber and Sussex Spaniels clinically appears in 1 year as an exercise intolerance. Proper diet rich in fats and low in sugar can control disease progression. Without this diet, affected dogs will die within a few years of age. Some studies also suggest that PDP1 deficiency causes high numbers of neonatal deaths and deaths shortly after birth.

Inheritance: autosomal recessive - read more

Mutation: PDP1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Canine hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis (RCND) is inherited genetic predisposition causing kidney, dermal and uterine cancer in German Shepherd Dogs. The syndrome is characterized by bilateral, multifocal tumours in kidneys and numerous firm nodules, consisting of dense collagen fibres in the skin and subcutis. In female dogs uterine cancer (benign smooth muscle tumour) is also present. Symptoms of the kidney cancer include blood in urine, polydipsia (excessive thirst or excess drinking), progressive weight loss, anorexia, vomiting, and respiratory distress.

Inheritance: autosomal dominant - read more

Mutation: FLCN gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Retinal Dysplasia/Oculoskeletal Dysplasia (RD/OSD) is a hereditary disease present in Labrador retriever breed. Affected dogs have skeletal abnormalities characterized by short-limbed dwarfism and ocular defects including vitreous dysplasia, retinal detachment and cataracts. This phenotype segregates as an autosomal recessive trait. Obligate heterozygotes may exhibit a mild ocular phenotype that ranges from vitreal strands and/or localized retinal dysplasia characterized by focal or multifocal retinal folds, to large plaques of dysplastic retinal tissue, but have a normal appendicular skeleton.

Inheritance: autosomal recessive - read more

Mutation: COL9A3 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and motor nerve cells. Clinical signs start between 2 and 7 months of age and include progressive proprioceptive ataxia with intermittent knuckling of the paws, hyperextension of the limbs, and self-mutilation wounds in the distal part of the limbs. Usually, the pelvic limbs are more severely affected than the thoracic limbs. In some cases autonomic signs such as urinary incontinence and, in the later stage, regurgitation has also been reported.

Inheritance: autosomal recessive - read more

Mutation: FAM134B gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Complex disease processes with varying clinical signs characterize auto-inflammatory diseases in dogs. Shar-Pei auto-inflammatory disease (SPAID) is characterised by skin inflammation (dermatitis), periodic fever and arthritis. Additional signs could be otitis, eye inflammation, erythema, thickened and pasty skin, recurrent intestinal inflammations and systemic amyloidosis. Onset of signs of inflammation is variable from 1 up to 12 years of age.

Inheritance: autosomal dominant (incomplete penetrance) - read more

Mutation: MTBP gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Skeletal dysplasia 2 (SD2) in Labrador Retrievers is hereditary form of mild disproportionate dwarfism occurring primarily in working lines of this breed. Disease has a very subtle short-legged phenotype. No obvious ocular or auditory involvement and secondary joint problems were detected in affected dogs like in some other diseases with short-legged phenotype.

Inheritance: autosomal recessive - read more

Mutation: COL11A2 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Spinocerebellar Ataxia (SCA) and Late Onset Ataxia (LOA) in dog are progressive diseases of gait incoordination and loss of balance. Diseases gradually affect parts of nervous system in cerebellum, which coordinate movement.

Clinical signs of Spinocerebellar Ataxia (SCA) usually become notable between 2 and 6 months of age and are similar to symptoms of Late Onset Ataxia (LOA). Observed symptoms include uncoordinated walking, problems with movement or, in some cases, complete loss of ability to move. In SCA but not in LOA, dogs have a series of seizures and myokymia. At the later stages of the disease, some dogs must be euthanized.

The symptoms are very similar to signs shown by dogs affected with Late Onset Ataxia (LOA), so there may be confusion in identification of the disease.

Inheritance: autosomal recessive - read more

Mutation: KCNJ10 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Spongy degeneration with cerebellar ataxia (SDCA) is genetically heterogeneous neurodegenerative disorder characterized by progressive degeneration of cerebellum and extracerebellar structures. First clinical signs appear in first few weeks of age and are mainly associated with cerebellardysfunction. Affected puppies showgeneralized ataxic gait, balance loss and seizures. Affected puppies may die during a seizure. Clinical signs show very rapid progression and puppies are usually euthanized.

Inheritance: autosomal recessive - read more

Mutation: KCNJ10 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Spongy degeneration with cerebellar ataxia (SDCA) is genetically heterogeneous neurodegenerative disorder characterized by progressive degeneration of cerebellum and extracerebellar structures.First clinical signs appear in first few weeks of age and are mainly associated with cerebellardysfunction. Affected puppies showgeneralized ataxic gait, balance loss, seizures and central blindness. Affected puppies may die during a seizure. Clinical signs show very rapid progression and puppies are usually euthanized.

Inheritance: autosomal recessive - read more

Mutation: ATP1B2 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Trapped neutrophil syndrome (TNS) is an autosomal recessive inherited neutropenia in the Border Collie breed. The disease, originally detected in Border Collies in Australia and New Zealand in the 1990's, is characterized by a marked reduction in numbers of neutrophils in peripheral blood and a hyperplasia of myeloid cells in bone marrow. Due to the severe neutropenia, affected dogs are consistently subject to life-threatening infections, resulting in premature death. However, a definitive diagnosis has been difficult because the original clinical characteristics except neutropenia have yet to be completely determined and the clinical features are often modified by chronic and recurrent infections.

Inheritance: autosomal recessive - read more

Mutation: VSP13B gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Van den Ende-Gupta Syndrome (VDEGS) is a skeletal syndrome causing severe skeletal anomalies that are already evident in puppies. The disorder is characterised by patellar luxation, underbite (shorter upper jaw), dislocated radial head and deviated nasal septum. In one study, 22% of the control population were carriers of the disorder.

Inheritance: autosomal recessive - read more

Mutation: SCARF2 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Von Willebrand's disease (vWD) is the most common hereditary bleeding disorder in dogs as well as in human. vWD is caused by partial or full absence of von Willebrand factor (vWF) or his unfunctionality due to structural abnormality. von Willebrand factor is multimeric plasma glycoprotein which plays a major role in haemostasis, the body response on blood vessel damage and bleeding. vWF protein is required for normal platelet adhesion at sites of vessel injury and promotes the platelet aggregation. In addition, it also stabilizes blood coagulation factor VIII (FVIII). Characteristic vWD clinical signs are: rapid occurrence of prolonged and persistent bleedings at sites of minor skin injuries and venipuncture, spontaneous mucosal bleeding from nasal cavity, intestines and gums, postoperative and posttraumatic injuries... Despite the vWF importance in blood clotting partial or complete absence of vWF from blood is not always lethal, as well as the vWD can remain unnoticed for years. Affected individuals may experience light, moderate or serious bleedings since vWD is genetically and clinically heterogeneous disease. In dogs, three types of von Willebrand's disease are occurring, and different mutations in the VWF gene are responsible for quantitative and qualitative vWF properties which are the basis for dividing vWD into vWD type I (partial absence of vWF), II (unfunctional vWF) and III (complete absence of vWF).

vWD type II is characterized by moderate to strong predisposition to severe bleeding that can be lethal. It occurs in German Wirehaired Pointer and German Shorthaired Pointer breeds. Typical for vWD type II are persistent bleeding episodes due to a qualitative defect of vWF, caused by the deficiency of large-molecular weight vWF multimers.

vWD is generally diagnosed by ELISA test detecting vWF antigen and is used only when bleeding occurs. In addition, it is always not possible to determine the genetic status of the animals due to the temporal variations in the amount of plasma vWF, therefore, the ELISA test is not a reliable test. The only reliable method for determining the genotype for vWD is a genetic diagnostic test, which determines the variant alleles of VWD gene that accurately differentiate between clear, carrier and affected dogs.

Inheritance: autosomal recessive - read more

Mutation: VWF gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Von Willebrand's disease (vWD) is the most common hereditary bleeding disorder in dogs as well as in human. vWD is caused by partial or full absence of von Willebrand factor (vWF) or his unfunctionality due to structural abnormality. von Willebrand factor is multimeric plasma glycoprotein which plays a major role in haemostasis, the body response on blood vessel damage and bleeding. vWF protein is required for normal platelet adhesion at sites of vessel injury and promotes the platelet aggregation. In addition, it also stabilizes blood coagulation factor VIII (FVIII). Characteristic vWD clinical signs are: rapid occurrence of prolonged and persistent bleedings at sites of minor skin injuries and venipuncture, spontaneous mucosal bleeding from nasal cavity, intestines and gums, postoperative and posttraumatic injuries... Despite the vWF importance in blood clotting partial or complete absence of vWF from blood is not always lethal, as well as the vWD can remain unnoticed for years. Affected individuals may experience light, moderate or serious bleedings since vWD is genetically and clinically heterogeneous disease. In dogs, three types of von Willebrand's disease are occurring, and different mutations in the VWF gene are responsible for quantitative and qualitative vWF properties which are the basis for dividing vWD into vWD type I (partial absence of vWF), II (unfunctional vWF) and III (complete absence of vWF).

vWD type III is the most severe form of vWD caused by complete absence of plasma vWF and it is often lethal. Therefore, affected dogs experiencing episodes of serious bleedings require blood transfusion. vWD type III occurs in Scottish Terrier, Shetland Sheepdog and Dutch Koiker breeds. Affected (homozygote) dogs have no detectable levels of vWF, carriers (heterozygotes) have moderately reduced amount of plasma vWF, but are clinically normal.

vWD is generally diagnosed by ELISA test detecting vWF antigen and is used only when bleeding occurs. In addition, it is always not possible to determine the genetic status of the animals due to the temporal variations in the amount of plasma vWF, therefore, the ELISA test is not a reliable test. The only reliable method for determining the genotype for vWD is a genetic diagnostic test, which determines the variant alleles of VWD gene that accurately differentiate between clear, carrier and affected dogs.

Inheritance: autosomal recessive - read more

Mutation: VWF gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Von Willebrand's disease (vWD) is the most common hereditary bleeding disorder in dogs as well as in human. vWD is caused by partial or full absence of von Willebrand factor (vWF) or his unfunctionality due to structural abnormality. von Willebrand factor is multimeric plasma glycoprotein which plays a major role in haemostasis, the body response on blood vessel damage and bleeding. vWF protein is required for normal platelet adhesion at sites of vessel injury and promotes the platelet aggregation. In addition, it also stabilizes blood coagulation factor VIII (FVIII). Characteristic vWD clinical signs are: rapid occurrence of prolonged and persistent bleedings at sites of minor skin injuries and venipuncture, spontaneous mucosal bleeding from nasal cavity, intestines and gums, postoperative and posttraumatic injuries... Despite the vWF importance in blood clotting partial or complete absence of vWF from blood is not always lethal, as well as the vWD can remain unnoticed for years. Affected individuals may experience light, moderate or serious bleedings since vWD is genetically and clinically heterogeneous disease. In dogs, three types of von Willebrand's disease are occurring, and different mutations in the VWF gene are responsible for quantitative and qualitative vWF properties which are the basis for dividing vWD into vWD type I (partial absence of vWF), II (unfunctional vWF) and III (complete absence of vWF).

von Willebrand's disease type I (vWD I), occurring in many dog breeds, is the most common form of vWD found in most mammals. vWD type I is characterized by mild to moderate bleeding tendency due to constant deficiency of otherwise completely functional plasma vWF and although in general is less severe than types II and III serious bleeding can occur.

vWD is generally diagnosed by ELISA test detecting vWF antigen and is used only when bleeding occurs. In addition, it is always not possible to determine the genetic status of the animals due to the temporal variations in the amount of plasma vWF, therefore, the ELISA test is not a reliable test. The only reliable method for determining the genotype for vWD is a genetic diagnostic test, which determines the variant alleles of VWD gene that accurately differentiate between clear, carrier and affected dogs.

Inheritance: autosomal recessive - read more

Mutation: VWF gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Agouti signal peptide (ASIP) or A locus is responsible for many different colour patterns in dogs. Specific A locus allele products can interact with functional MC1R and thus interfere with production of black melanin. Dogs have four different ASIP gene alleles with following dominance hierarchy: A^y > a^w > a^t > a, meaning that the most dominant allele present will be expressed.

Genes on A locus (agouti) are expressed only if a dog on K locus does not carry K^B allele (combination K^B/K^B or K^B/n) and/or on E locus does not have e/e combination. In dogs that are able to express A locus the basic colour can be additionally modified by B or D locus. Thus the dog with a genotype b/b on B locus has all the pigmented areas changed from black to chocolate/liver brown (dog that is fawn/sable (A^y) is a livernose, while the a^t/a^t dog has chocolate-and-tan instead of black-and-tan coat colourin addition to livernose).

A^y allele is the most dominant allele and determines the fawn or sable coat colour. The dog that has both A^yalleles (homozygote A^y/A^y) or one in a combination A^y/a^w or A^y/a^t or A^y/a will be always fawn or sable, if A locus expression is enabled by the E and K loci.

Wild type a^w allele is responsible for switching between eumelanin and pheomelanin synthesis, causing that individual hairs have eumelanin and pheomelanin patches from base to tip. This phenotype is called agouti (wolf grey or wolf sable). Banded hairs are usually present along the dorsal area of the torso. The dog will express agouti colour when having the combination of a^w/a^w, a^w/a^t or a^w/a alleles, if A locus expression is enabled by the E and K loci.

Allele a^t is responsible for black-and-tan or tricolor phenotype. Black-and-tan dogs are basic black with brown pheomelanin on ventral region, legs, cheeks and as dots above the eyebrows (eg. Doberman). Tricolor dogs in addition to black and brown have white colour due to the absence of pigment in certain areas of the body (eg. Rough Collie). The amount and distribution of pheomelanin may vary between individual dogs and between breeds. A dog with two a^t alleles or one in a a^t/a combination will be black-and-tan or tricolor (if A locus expression is enabled by the E and K loci).

Allele a is the least frequent allele of the A locus and is responsible for recessive black or bicolor phenotype. It occurs only in shepherd breeds and is the only cause of black German Shepherd and bicolor Shetland Sheepdog. Because a allele is the most recessive of A locus alleles the dog must have two a alleles in order to express recessive black. The offspring will always have one a allele. In the case where an animal does not have black coat colour the result of genetic test reveals whether the dog carries recessive black allele.

Testing for A locus resolves which two of the four possible alleles is present. As mentioned above, the expression depends on the status of E and K loci.

You can read more about dog coat colours here.

Gene TYRP1 (Tyrosinase related protein 1) is responsible for chocolate/liver brown colour in dogs. This coat colour is inherited recessively. There are 4 different alleles on B locus: normal B allele (dominant), and three recessive alleles b^c, b^s and b^d. Combination of any two recessive alleles will result in chocolate/liver brown colour (for example two b^c alleles or one b^c and one b^s allele).

Because TYRP1 gene is related to eumelanin production, it only affects dogs which have genotype E/E or E/e on E locus. B locus also affects colour of the nose, eyes and pads. Dogs with genotype e/e produce only pheomelanin in coat but production of eumelanin in the nose, eyes and pads is not affected and therefore totally controlled by B locus. Depending on genotypes of E and B loci dog can have yellow coat and brown nose/eyes (e/e, b/b) or chocolate coat and brown nose/eyes (E/e or E/E and b/b).

Test for B locus is divided into three separate tests in order to find the presence of recessive alleles. Results are presented as combined results as well as results for each single allele tested.

You can read more about dog coat colours here.

Hair length is one of the most important morphological traits in many dog breeds. Differences in coat length are visible in various dog breeds, but for some, the breed standard allows only one coat length. In some breeds, long or short variant is inacceptable. One such example is Pembroke Welsh Corgis where longhaired dogs (also called "fluffies") are inacceptable.

Inheritance: autosomal recessive - read more

Mutation: FGF5 gene

D locus is responsible for coat colour dilution. Mutation of the MLPH gene (melanophilin) is responsible for most cases of diluted colours. While all mutations and genes causing colour dilution has not been discovered yet, all cases of dilution cannot be explained by genetic testing. MLPH gene encodes a protein melanophilin, a key component in the hair and skin pigment formation. A mutation in the gene causes the improper distribution of melanosomes and coat colour dilution. The mutation has an effect on the formation of black eumelanin as well as red-yellow pheomelanin, though in lesser extent. The dilution of black pigment results in blue or grey coat colour, and dilution of brown pigment results light brown or isabella. D locus is not responsible only for coat pigment dilution but also dilutes pigment of the nose, pads and eyes.

You can read more about dog coat colours here.

Melanocortin 1 receptor (MC1R) on E locus is responsible for regulation of pigment production in melanocytes. Mutation inMC1R gene results in non-functional receptor and switches pigment production to pheomelanin. Because production of eumelanin is disabled, effect of other loci is not possible. Mutation is recessive therefore, two such alleles are necessary for yellow-red (pheomelanin) coat colour expression. Different dog breeds with genotype e/e express different colour shades from light cream (Golden Retriever) to deep red (Irish Setter). E locus does not interfere with pigment production on pads, nose and eyes (regulated by B locus).

Dominant normal E allele allows production of eumelanin therefore, all homozygous (E/E) and heterozygous (E/e) dogs will be either black or other colour, if other loci are expressed (B, A and K locus).

You can read more about dog coat colours here.

Mutation in melanocortin 1 receptor is responsible for the development of black melanistic mask in some dog breeds. Mask appears due to eumelanin production in the region of the muzzle, eyebrows, and ears and can even spread to the pectoral and dorsal area. Dominant mutated allele is named E^M. Mask is expressed in homozygous (E^M/E^M) and heterozygous dogs (E^M/E^X). Homozygous dogs will have puppies with masks regardless of genotype of the other parent. In some dogs, although they carry the mutation, mask is not visible due to coat colour. Mask is visible in fawn/sable (Great Dane, German Shepherd) and brindle dogs (Boxer). Mask is not visible in dogs with black, chocolate/liver or blue coat colour. In such cases mask can become partially visible due to age related greying on the rest of the body. In addition, dogs with white muzzles sometimes do not show mask. Although mask is not visible dog can transfer mask allele to its offspring.

You can read more about dog coat colours here.

So-called ˝furnishing˝ means that the dog has increased hair growth on the face and legs, which is described as the canine moustache and eyebrows. Furnishings refer to the variation of longer facial hair seen in all wirehaired breeds as well as some others.

Inheritance: autosomal dominant - read more

Mutation: RSPO2 gene

So-called ˝improper coat˝ in some breeds means that the coat is not typical for this breed and does not express "furnishings". Parker et. al. (2010) reported that improper coat is occasionally observed among specific breeds, such as the Portuguese Water Dog. It is characterized by short hair on the head, face, and lower legs, rather than a thick and even coat covering the whole body.

Inheritance: autosomal recessive - read more

Mutation: RSPO2 gene

β-defensin 103 (CBD103) gene on K locus has a major role in coat colour expression in dogs. Its protein binds to MC1R which results in pigment switching. Recently mutation in CBD103 gene was associated with black coat colour in many dog breeds. K locus is dominant over A locus and therefore determines if colours coded on A locus will be expressed. Expression of K locus depends on E locus genotypes. Three different alleles are described on K locus with following hierarchy: K^B (dominant black) > k^br (brindle) > k^y (normal).

K^B allele (dominant black) codes for uniform coat coloration. Mutation does not allow expression of A locus, which results in solid pigmented regions. Because of dominant mode of inheritance, only one allele is necessary for suppression of A locus. Homozygous or heterozygous dog will express only basic coat colour determined by genotypes on B and E locus.

Allele k^br codes for brindle coat pattern. It allows expression of A locus, but it affects it in a way, that dog has brindle agouti patterns. Brindle coat consists of dark eumelanin stripes on pheomelanin base (fawn). The colour of eumelanin stripes is defined by B and D loci. Allele k^br is recessive to K^B allele, but dominates over k^y. Genotypes, which express brindle coat pattern, are k^br/k^br or k^br/k^y.

Allele k^y is normal allele without a mutation and has no effect on coat colour. It allows full expression of colours defined by A locus.

With available genetic test, it is possible to detect K^B allele. Reliable differentiation of k^br and k^y alleles is not possible at the moment therefore alleles where K^B is not present are labelled as n. Genetic test for K locus determines if dog is homozygous or heterozygous for K^B allele allowing expression of A locus, but cannot differentiate which of the recessive allele is present in tested dog. With a combined analysis of parent’s and offspring’s coat colour and K locus genetic test, it is possible to predict whether dog carries k^br allele. In breeds, which do not express brindle colour pattern genetic test for K locus is sufficient for full analysis.

You can read more about dog coat colours here.

Merle coat pattern is inherited as an autosomal, incompletely dominant trait. Merle is a coat pattern characterized by irregularly shaped patches of diluted pigment and original colour and is seen in many dog breeds. Merle gene not only alters base coat colour, but also modifies eye colouring, colouring on the nose, paw pads and skin. The Merle gene modifies the dark pigment in the eyes, thus merle dogs typically have blue or partially blue eyes. Because of random modifications, dark-eyed, blue eyed and odd-coloured eyes are possible. Colour on paw pads and nose may be mottled pink and black.

Merle dogs can have one copy of normal allele m and one copy of merle allele M (merles - heterozygous dogs carrying alleles M/m) or two copies of merle alleles (double merles- homozygous dogs carrying alleles M/M). Heterozygous merle dogs typically have mottled patches of colour in a solid or piebald coat, and can have blue or partially blue eyes. They usually have no hearing or eye problems. Double merle dogs are predominantly white and often have a wide range of auditory and ophthalmologic defects and multiple abnormalities of skeletal, cardiac, and reproductive systems. Breeding between two merles is thus discouraged to avoid producing double merle offspring.

Merle affects only black pigment eumelanin, thus any black, liver, blue or isabella coat colour, and also eyes and nose will be merled. Red pigment phaelomelanin is not affected by merle at all and will appear as normal, thus red (genotype ee) dogs that are genetically merles will appear as normal and will be hidden merles, only the eyes can be blue. They do not express merle but can produce merle offspring. Similar case of hidden merle is with sable dogs (having one allele Ay) where only the tip of the hair can be merled while producing eumelanin and it is difficult to visually distinguish a merle from non-merle dog.

Another type of hidden merles are cryptic merles. Cryptic merle dogs phenotypically appear to be a non-merle or have slight merle coloration that can go unnoticed. These dogs can be heterozygous or homozygous for shorter version of merle gene- allele Mc (Mc/m, Mc/Mc) and have no health problems. Because this dogs are normal coloured they can be incorrectly registered as non-merles.

Inheritance of merle is genetically unstable for both M and Mc alleles. In the offspring allele M can occasionally undergo reduction to produce Mc, while Mc may expend and revert to M. When breeding cryptic merle (Mc/m) with a non-merle (m/m) the offspring can have following genotypes: cryptic merle/non merle (Mc/m), merle/non merle (M/m), non merle/non merle (m/m).

Because of autosomal dominant mode of inheritance double merle, merle, double cryptic merle and cryptic merle coat pattern is expressed in animals that carry a mutation (one or both affected alleles). Because of potential health risks DNA testing for merle gene is recommended to reveal the genetic background of dogs for the merle gene variants for those breeds where this colour dilution pattern is present. With the aim of prevention of possible animal suffering it is advised to avoid breeding of double merles, merles and cryptic merles with merles, and preferred to breed with non-merle (m/m) dogs.

Inheritance: incomplete autosomal dominant - read more

Mutation: SILV gene

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

White spotting patterns occur in many dog breeds. The genetic determination of white spotting in dogs is complex and it has been found that is associated with Microphthalmia Associated Transcription Factor gene (MITF). Short interspersed nucleotide element (SINE) is responsible if the dog is spotted or not.

All dogs that are homozygous for the SINE insertion (genotype sp/sp) have white markings that cover either ventral surface (mantle pattern) or most of the body (piebald or extreme white spotting). Expression of white patterns varies from breed to breed and among individuals within a breed.

In most breeds, dogs heterozygous for the SINE insertion (genotype S/sp) are solid colour or have minimal white, such as on the toes. In some breeds, heterozygotes have white undersides, often with a white collar- the pattern is called pseudo-Irish.

All dogs without SINE insertion (genotype S/S) are solid or single-coloured.

This test is specific for the SINE mutation in MITF gene known to be associated with random white spotting - piebald. For testing of Irish spotting, a symmetrical white marking, this test is not appropriate.

Inheritance: autosomal co-dominant - read more

Mutation: MITF gene

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Dogs differ greatly in their morphological characteristics including various tail phenotypes. Congenitally short-tailed dogs are present in many breeds. The short-tail phenotype includes either a complete lack of vertebrae or a short tail with variable length. A mutation that causes short tail in some breeds can also affect some other properties of the dog. Pembroke Welsh Corgi with homozygous mutation for short tail having severe anatomical defects. In some breeds decrease in the litter size have also be observed.

In some breeds characterized by naturally occurring short-tail, the mutation has not been found. That sway we do not recommend this test for identification of natural short tail in following breeds: Boston terrier, English bulldog, King Charles spaniel, Miniature Schnauzer, Parson Russell Terrier and Rottweiler.

Inheritance: autosomal dominant - read more

Mutation: T-Box gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Blood samples are preferred for DNA profile testing because the method is very sensitive to DNA quality. Analysis can be performed on buccal swab samples, but swabs must be taken properly. If DNA profile testing is unsuccessful due to DNA quality issues, we charge 50 % of full price.

Establishing of DNA profile means analysis of universal DNA regions (microsatellites) which are characterized by length variations. An individual carries two alleles on each tested microsatellite. These two alleles can differ in length or they can be the same. By testing sufficient number of microsatellites we can establish unique, individual specific DNA profile also named ''DNA fingerprint''. DNA profile is useful for animal identification (loss, theft, microchip failure...), parentage analysis, breeding plans and exclusion of genetic diseases (clear by parentage).

For establishment of DNA profile the following 22 microsatellite markers are analysed: AHT121, AHT137, AHTh171, AHTh130, AHTh260, AHTk211, AHTk253, Amelogenin, CXX279, FH2054, FH2848, INRA21, INU005, INU030, INU055, REN105L03, REN162C04, REN169D01, REN169O18, REN247M23, REN54P11, REN64E19. Tested markers are recommended by ISAG (International Society of Animal Genetics).

Quality control

Laboratory regularly participates in international quality control comparison test, which is organized every 2 years by ISAG (International Society of Animal Genetics). On latest test in 2015-2016 EVG laboratory was 100% successful and achieved the highest rank. Latest certificate: