Quick Summary
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Phenotype: Affected dogs may show laryngeal paralysis, eye problems, limb weakness, and motor deficits. The disease has an early onset (around 3 months of age) and affected animals either die or are euthanized for steadily decreasing quality of life by 1 year of age.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal, P = Polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV)
Breeds appropriate for testing: Black Russian Terrier, Rottweiler
Explanation of Results:
- Dogs with N/N genotype will not have polyneuropathy with ocular abnormalities and neuronal vacuolation and cannot transmit this POANV variant to their offspring.
- Dogs with N/P genotype will not have polyneuropathy with ocular abnormalities and neuronal vacuolation, but are carriers. They will transmit this POANV variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% POANV-affected puppies.
- Dogs with P/P genotype will have polyneuropathy with ocular abnormalities and neuronal vacuolation, a fatal condition.
Results of this test can be submitted to the OFA (Orthopedic Foundation for Animals)
Rottweiler Health Panel
$130 per animal
Sample Collection
Dog DNA tests are carried out using cells brushed from your dog's cheeks and gums. The preferred cytology brushes are sent to you by mail, or you may provide your own brushes. For accepted alternative brushes, click here
We recommend waiting until puppies are at least three weeks old before testing.
Step-By-Step:
- Make sure the dog has not had anything to eat or drink for at least 1 hour prior to collecting sample.
- When swabbing puppies, isolate each puppy from the mother, littermates and any shared toys for 1 hour prior to swabbing. Puppies should not have nursed or eaten for 1 hour prior to collecting sample.
- If collecting samples from more than one dog, make sure to sample one dog at a time and wash your hands before swabbing another dog.
- Label brush sleeve with name or ID of dog to be sampled.
- Open brush sleeve by arrow and remove one brush by its handle.
- Place bristle head between the dog’s gums and cheek and press lightly on the outside of the cheek while rubbing or rotating the brush back and forth for 15 seconds.
- Wave the brush in the air for 20 seconds to air dry.
- Insert brush back into sleeve.
- Repeat steps 5 - 8 for each unused brush in sleeve on a fresh area of cheek and gums. Make sure to use and return all brushes sent by the VGL. In most cases, it will be 3 brushes per dog. If using interdental gum brushes, please note that the VGL requires 4 brushes per dog and only moderate or wide interdental gum brushes are accepted.
- Do not seal brushes in sleeve.
- Place all samples in an envelope and return to the address provided.
ATTENTION:
- Do not collect saliva/drool – the key to obtaining a good sample is getting cheek cells on the swab
- Do not rub swab on the dog’s tongue or teeth – this will result in poor quality sample
- Do not collect a sample from a puppy that has recently nursed – the mother’s genetic material can rub off on the puppy’s mouth and contaminate the sample
Polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV) is a hereditary neurologic defect that occurs in Black Russian Terriers and Rottweilers. This disorder has been previously described as juvenile-onset, laryngeal paralysis and polyneuropathy (JLPP) in Black Russian Terriers and neuronal vacuolation and spinocerebellar degeneration (NVSD) in Rottweilers. Signs of disease common to both breeds are early onset (around 3 months of age) of laryngeal paralysis (failure of the voice box to function), microphthalmia (small eyes), congenital cataracts (clouding of the lens of the eye) and axonal peripheral neuropathy (damage of peripheral nerves in muscle, skin) that presents as pelvic limb weakness and motor deficits. The disease is progressive and affected animals either die or are euthanized for steadily decreasing quality of life by 1 year of age.
POANV results from a nucleotide deletion in the RAB3GAP1 gene (c.743delC), reported here as P. The disease is inherited in an autosomal recessive fashion, which means that males and females are equally affected and that two copies of the defective gene are needed to cause POANV. Dogs with one normal and one affected gene (carriers) are normal and show no sign of the disease.
Testing for POANV assists clinicians with diagnosis of POANV and helps breeders to identify carriers to avoid breeding these together. Mating of carriers is expected to produce 25% of affected puppies
