Hereditary Disease Testing

A Genetic disorder is a disease caused by abnormalities in genes or chromosomes.

These diseases may be passed from parent to offspring and can be the cause of much discomfort and suffering for the animal concerned – not to mention expense and heartache for the owner! As our knowledge of these genetic disorders improves, new tests are constantly being developed to help reduce the occurrence of these diseases. This means that animals can be scanned before breeding to ensure that these harmful genes are not passed on to future generations.

If you have any questions regarding hereditary diseases, or would like to find out about getting your pet tested – please ask one of our staff for more details.

Tests available for Dogs

Hip Scoring

Hip dysplasia is an abnormal formation of the hip joint leading to increased wear and tear on the joint cartilage. This can eventually result in arthritis which can be a very painful condition, sometimes resulting in euthanasia. Many breeds are prone to hip dysplasia, particularly Labradors, Golden Retrievers, German Shepherds, and collies. Hip scoring is done by experts at the British Veterinary Association who grade x-rays sent in by your Vets. Your dog is then given a score which is compared to the breed average. It is recommended that dogs who score higher than the average for their breed are not bred from.

Elbow Scoring

This is very similar to hip scoring. Your Vet will take a series of x-rays of your dog’s elbows which will then be sent to the BVA for scoring. Elbow scoring is done to try and decrease the occurrence of elbow dysplasia which also results in lameness, arthritis and pain in elbows. Labradors, Golden Retrievers and German Shepherds are also prone to Elbow Dysplasia.

Progressive Retinal Atrophy

This is an inherited disease that causes degeneration of the retinal cells in the eye resulting in blindness. Clinical signs usually start early in adulthood and blindness is irreversible. Many breeds are affected including Golden Retrievers, Labradors, Miniature Poodles, Portuguese Waterdogs and Toy Poodles. To get your pets tested a mouth swab or blood sample can be taken by your vet and sent to a lab for analysis.

Dwarfism (Hypopituitarism) 

Inherited dwarfism is a condition caused by inadequate production of growth hormone This hormone is secreted by the pituitary gland situated at the base of the brain. Growth hormone is involved in growth rate, coat maintenance and boned development. Signs of stunted growth and retention of puppy coat and dentition are usually apparent by three months of age. German Shepherds and Saarloos Wolfdog are the two breeds affected.

Von Willebrand Disease (VWD)

Dobermans, Miniature Poodles, German Pinschers, Toy Poodles, Poodles and Pembrook Welsh Corgis can all be tested for this disease VWD is the most commonly inherited breeding disorder in dogs. Affected animals are unable to produce protein in the clotting process. Animals usually die due to excessive uncontrollable haemorrhage. To test for carriers of this disease a blood sample or mouth swab is taken and sent for analysis.

Phosphofructokinase Deficiency

This is an inherited glycogen storage disease. Affected dogs show intermittent clinical signs, mainly lethargy, exercise intolerance, muscle cramps and dark coloured urine. The use of blood tests or mouth swabs can identify carriers of the gene in English Springer Spaniels and Cocker Spaniels.

Copper Toxicosis

This is an inherited disorder in Bedlington Terriers that results in liver disease due to Copper accumulation and toxicity. These dogs usually die from liver failure between 3 – 7 years of age. Dogs can be screened using a simple blood test or mouth swabs.

Myotonia Congenita

This condition affects the skeletal muscles of Miniature Schnauzers. It causes a delay in relaxation of the muscles resulting in a stilted gait, difficulty swallowing and difficulty rising after rest. Carriers for the gene can be identified using a blood test or buccal swabs.


Feline Polycystic Kidney Disease

Persians are most commonly affected with approx 38% of Persians being positive for the disease, making this the most prominent inherited feline disease. The kidneys of affected cats become full of fluid filled cysts eventually resulting in renal failure. A blood test or mouth swab can be used to identify positive cats.

Hypertrophic Cardiomyopathy in the Ragdoll

In these animals the muscle of the cardiac wall thickens resulting eventually in heart failure. Ragdolls can be tested for the predisposing gene by a blood test or mouth swab