Why is genetic testing important?

Genetic information obtained from DNA works as a “blueprint” dictating physical and biological characteristics. As half of the information comes from each parent, inherited conditions can be passed on to offspring. The Michigan State University Veterinary Diagnostic Laboratory (MSU VDL) offers a series of diagnostic genetic tests for the purpose of detecting disease-associated genetic alterations and identifying an animal’s risk of developing inherited conditions. Moreover, it can help determine a breeding plan leading to the reduction and eventual elimination of inherited conditions in a particular breed. A small blood sample (1 ml) is all that is needed, and the results are ready in two weeks on average.

Maine Coon Kittens

When should one consider submitting genetic testing?

Genetic testing for inherited conditions should be strongly considered when:

  • The animal has a clinical presentation or family history that suggests an inherited condition
  • A parent of the animal is a carrier for an inherited condition
  • There is a presence of birth defects, such as neurologic or skeletal abnormalities, that are known to be associated with inherited disease
  • Purebred or mixed breed animals are known to have an increased chance of having a certain hereditary condition

How does it work?

Genetic testing is performed in different ways, including:

  • Diagnostic testing is performed in order to identify or rule out the symptom causing mutation and, in many cases, to confirm the diagnosis.
  • Predictive testing is used when there is a probability of carrying the mutation and developing symptoms later in life yet no symptoms are detected.
  • Carrier testing is relevant for animals that may carry a mutation (but are not themselves affected) as there is risk for their offspring to be affected.
  • Pharmacogenomic testing gives information about how certain medicines are processed by an animal’s body. This type of testing can help veterinarians choose the medicines that work best with the animal’s genetic makeup.
Chocolate Labrador


This genetic testing assesses an animal’s mutation status for inherited conditions, including:

  • Conditions that shorten lifespan or affect quality of life
  • Conditions where early treatment can make a difference
  • Conditions where specific treatments/managements are required
  • Conditions where there are limited or no treatment options available

A full list of inherited conditions/mutations that are currently available at the MSU VDL is included here.

  • Conditions


    Affected breeds

    Clinical signs

  • Centronuclear Myopathy
    Labrador Retrievers
    Weight loss, a loss of muscle tone and control, an awkward gait, and extreme exercise intolerance
  • Degenerative Myelopathy
    Bernese Mountain Dog and multiple breeds
    Progressive weakness and incoordination of limbs
  • Dystrophic Epidermolysis Bullosa
    Golden Retriever
    Fragile skin that is easily damaged from rubbing or trauma resulting in blisters and ulcers of the oral and esophageal mucosal, scarring of the skin, nails dystrophy, and growth retardation
  • Exercise-induced Collapse
    Labrador Retrievers
    Wobbly gait after exercise, which soon progresses to nonpainful, flaccid paraparesis and a loss of control of the rear limbs
  • F7 deficiency
    Airedale Terrier, Beagle, Deerhound, Finnish Hound, Giant Schnauzer, Welsh Springer Spaniel, and Alaskan Klee Kai
    Mild bleeding disorder
  • Hereditary Cataracts
    Australian Shepherd
    Bilateral progressive posterior cataract
  • Hyperuricosuria
    Multiple breeds
    Urate urolithiasis, Urinary tract obstruction
  • Ichthyosis
    Labrador Retriever, Flat-Coated Retriever, Curly Coated Retriever, and Chesapeake Bay Retriever
    Excessive production of dandruff, thickened and hyperpigmented skin, generalized scaling
  • Junctional Epidermolysis Bullosa
    German Pointer
    Fragile skin and blistering disorder of the skin and mucous membranes
  • Late Onset Ataxia
    Parson Russell Terrier and Jack Russell Terrier
    Incoordination of gait and lack of balance
  • Multidrug Sensitivity
    Multiple breeds
    Accumulation and toxicity of some drugs
  • Neonatal Encephalopathy with Seizures
    Severe generalized clonic-tonic seizures
  • Neuronal Ceroid Lipofuscinosis
    Golden Retriever
    Progressive neurodegeneration resulting in progressive motor decline with seizures and loss of coordinated muscle movements, cognitive decline and abnormal behavior, and early death
  • Obesity
    Labrador Retriever, Flat-Coated Retriever
  • Persistent Mullerian Duct Syndrome
    Miniature Schnauzer
    Developmental abnormalities of the male reproductive tract
  • Pituitary Dwarfism
    German Shepherd, White Shepherd, Karelian Bear Dog, Saarloos Wolfdog and the Czechoslovakian Wolfdog
    Growth retardation and poor body condition due to inadequate production of the Growth Hormone
  • Primary Lens Luxation
    Multiple breeds
    Dislocation or displacement of the lens in the eye due to weakened zonular fibers
  • Progressive Retinal Atrophy
    Golden Retrievers and Goldendoodles
    Progressive vision loss leading to total blindness due to bilateral degeneration of the retina.
  • Progressive Retinal Atrophy
    Multiple breeds
    Night blindness and loss of peripheral vision leading to total blindness due to degeneration of both rod and cone photoreceptor cells of the retina
  • PTPN11 Mutation
    Bernese Mountain Dog and multiple breeds
    Histiocytic sarcoma
  • Renal Cystadenocarcinoma and Nodular Dermatofibrosis
    German Shepherd
    Bilateral multifocal tumors in the kidneys, uterine leiomyomas and dermatofibrosis in the skin
  • Skeletal Dysplasia
    Labrador Retrievers
    Short legs with normal length and width of the body
  • Spinocerebellar Ataxia
    Jack Russell Terrier, Smooth-haired Fox Terrier and Toy Fox Terrier
    Prominent hypermetria along with a bouncing gait and falling with difficulty returning to standing position
  • Von Willebrand’s Disease Type 1
    Multiple breeds
    Excessive bleeding
  • Von Willebrand’s Disease Type 2
    Chinese Crested, Collie, Deutsch Drahthaar, German Longhaired Pointer, German Shorthaired Point, German Wirehaired Pointer, and Pointer
    Bleeding disorder
  • Von Willebrand’s Disease Type 3
    Scottish Terriers, Dutch Kooiker
    Severe bleeding disorder
  • Hypertrophic Cardiomyopathy
    Maine Coon, Ragdoll
    Cardiac disease, heart failure
  • Polycystic Kidney Disease
    Multiple breeds
    Renal failure, multiple cysts forming in the kidneys as well as hepatic and pancreatic cysts
  • Pyruvate Kinase Deficiency
    Multiple breeds
    Hemolytic anemia
  • Spinal Muscular Atrophy
    Maine Coon
    Abnormal gaits due to muscle weakness

What happens next?

Results from genetic testing can predict with a high level of confidence that an animal will fall into one of three categories:

An “Affected” test result means that the animal has a specific genetic alteration (or mutation) that is associated with a hereditary disease. If the animal has a clinical abnormality, it confirms the diagnosis of a hereditary condition. If the animal is clinically normal, an affected result may indicate an increased risk of developing certain conditions in the future. However, it does not guarantee the animal will get the disease. It does mean the mutation will be passed on to offspring.

A “Carrier” test result means that the animal has both a normal and mutated copy of the gene (autosomal recessive diseases). Active disease is unlikely to occur. This mutation can, however, be passed to offspring. If both parents have a mutation, there is a 1 in 4 (25%) chance for every pregnancy that the offspring will inherit the mutation from both parents and develop disease. A “Clear” test result means that the animal does not have the gene change. This may mean the disease does not run in their family or was not passed on to them.

A “Clear” result means that the animal is extremely unlikely to develop the genetic condition. The risk of developing the disease is the same as it is for other animals.


Our genetic testing has been designed to be highly accurate and comprehensive. We are dedicated to helping veterinarians and pet owners make informed decisions about their animal’s health.

Later this year, individual tests will be bundled into breedspecific panels to make it easier to order genetic screening for a particular breed.