A number of tests are available for the Bernadoodle. Two or more of these tests purchased as part of this bundle will be discounted.
- Day Blindness/Retinal Degeneration
- Degenerative Myelopathy associated with the SOD1 gene
- Polyneuropathy associated with the GJA9 gene
- Laryngeal Paralysis and Polyneuropathy associated with the CNTNAP1
- Polyneuropathy associated with the ARHGEF10 gene
Day Blindness/Retinal Degeneration
Day blindness, also known as achromatopsia, is characterised by a failure of cone cells in the retina to function properly. Cone cells are responsible for vision in bright light conditions and thus affected puppies have signs of poor vision in bright light but initially retain normal vision in low light levels.
Affected dogs lose vison in bright light conditions. However, unlike other forms of day blindness in other breeds, the DB/RD mutation eventually leads to a complete retinal degeneration and ultimately causes vision loss under all lighting conditions. Day blindness is present in puppyhood and general retinal degeneration develops around 4-5 years of age.
Important: Degenerative Myelopathy is a rare disease that presents most commonly in German Shepherd Dogs and Boxers, sporadically in Pembroke Welsh Corgis, Cardigan Welsh Corgis, Bernese Mountain Dogs, Rhodesian Ridgebacks, Borzoi and Chesapeake Bay Retrievers. It is rarely diagnosed in other breeds or mixed-breed dogs. DM is considered genetically complex and will have more than one contributing genetic variant. The variant targeted by this test is widespread and found in more than 120 breeds. However, association of the variant with the disease has only been shown in very few breeds and should never be used to inform breeding decisions, except where close relatives have been clinically diagnosed.
Canine degenerative myelopathy (previously also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. Most dogs are at least 8 years old before clinical become apparent. DM usually starts with a muscle weakness, loss of muscle and loss of coordination (ataxia) in the hind limbs. Progression is generally quote slow, but dogs will eventually be crippled within approximately 3 years of the onset of disease.
LPN2 in Leonbergers and Saint Bernard dogs is an inherited polyneuropathy (PN), which is characterised by generalised weakness, low muscle tone, exercise intolerance, gait abnormalities and muscle atrophy of the pelvic limbs. Degeneration of the recurrent laryngeal nerve results in laryngeal paralysis, which causes abnormal barking and breathing sounds. Age of onset ranges from less than one to 10 years of age, with an average age of six years. Dogs with at least on copy of the LPN2 variant explain 21% of all cases of PN in the breed.
Laryngeal Paralysis and Polyneuropathy
Laryngeal paralysis and Polyneuropathy (LPPN) in an inherited neuropathy in dogs. Laryngeal paralysis (LP) results in loss of function of the larynx leads to breathing difficulties, reduced exercise and heat tolerance, and increased risk aspiration pneumonia. In addition, atrophy of laryngeal muscles and the decreased movement of the attendant laryngeal cartilages result in the airway remaining open during swallowing of food and water. Laryngeal paralysis is often reported as part of a more generalized length-dependent polyneuropathy (PN), which manifests with additional signs that include proprioceptive and motor abnormalities, slowly progressing pelvic limb weakness, and loss of limb muscle mass.
The disease is heterogenous, meaning the genetic variants that cause the disease vary between and within breeds. A form of LPPN in Leonberger, Labrador Retriever and Saint Bernard dogs has been associated with the CNTNAP1 gene (LPPN3). The average age of onset of this form for the disease is 3.4 years in Leonbergers, 2.1 years in Saint Bernards and 7.5 years in Labrador Retrievers. Polyneuropathy is widespread in Leonbergers, and to date two additional variants, LPN1 and LPN2, have been identified.
LPN1 in Leonbergers and Saint Bernard dogs is an inherited polyneuropathy (PN), which is characterised by generalised weakness, low muscle tone, exercise intolerance, gait abnormalities and muscle atrophy of the pelvic limbs. Degeneration of the recurrent laryngeal nerve results in laryngeal paralysis, which causes abnormal barking and breathing sounds. Age of onset ranges from less than one to 11 years of age. LPN1 accounts for approximately 11% of all PN cases in the Leonberger breed, and 2 additional variants have been identified as well, LPN2 and LPPN3.