Quick Summary
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Phenotype: Narcolepsy in Doberman Pinschers is characterized by the inability to remain awake or active for extended periods of time, especially after stimulation.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal, DN = Doberman Pinscher narcolepsy variant present
Breeds appropriate for testing: Doberman Pinscher
Explanation of Results:
- Dogs with N/N genotype do not have the Doberman Pinscher narcolepsy variant.
- Dogs with N/DN genotype are carriers of Doberman Pinscher narcolepsy. If two carriers are mated, 25% of the offspring in the litter are expected to be affected and another 50% of the offspring are expected to be carriers.
- Dogs with DN/DN genotype will display symptoms of narcolepsy.
Results of this test can be submitted to the OFA (Orthopedic Foundation for Animals)
Doberman Pinscher 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
Narcolepsy is a chronic sleep disorder characterized by an inability to remain awake or alert for extended periods during normal waking hours or especially after stimulation. A narcoleptic episode often involves collapse into a sleeping episode that ends abruptly, and then the dog resumes normal activity. Affected dogs may not completely fall asleep but may just be unalert. Affected dogs typically show signs between 4 and 6 months of age. However, symptoms can occur as early as 1 month and do not seem to progress after 1 year.
In Doberman Pinschers, an insertion of 226 bp in hypocretin receptor 2 gene (HCRTR2: c.647 -35ins226) has been identified as the causal mutation. This gene is involved in cell signaling that enables normal regulation of sleep and wakefulness. This insertion is predicted to alter the normal gene product (protein) by disrupting the last 50% of the protein.
In Doberman Pinschers, the disease is inherited in an autosomal recessive fashion, meaning two copies must be present for the disease to manifest, and both sexes are affected equally.
Recommendations on testing: Testing for narcolepsy can assist veterinarians with diagnosis. This test is specifically recommended for Doberman Pinschers, particularly those related to affected dogs, as test results can assist in identifying carriers among breeding stock to select appropriate mates that will reduce the risk of producing affected offspring. Breeding two carriers is predicted to produce litters with 25% of the pups being affected. Breeding affected dogs or carriers to each other is not recommended.