DNA results of Lucy

Next to the extensive physical examinations we also conduct DNA research. We have the wonderful opportunities to make this happen so we happily make use of this. It can teach us a lot about things that are not visible from the outside and it can prevent a lot of damage in the future.

For these tests we rely on a laboratory from the USA, Embark. They offer a total package. Almost 200 traits are tested from a cheek swab. After about 6 to 8 weeks the results are sent to you.

In the case of Lucy we even got a personal email with more specific explanation. She turns out to be a carrier of something that normally is not present in French Bulldogs Because the employee and vet from Embark can do a much better explanation than myself I copied the email below.

Greetings from Embark, Chantal!

Thank you very much for your support of Embark. My name is Erin; I’m Embark’s resident veterinary geneticist and your point of contact for all things Embark and medical genetics-related.

I’m writing to let you know that Lucy vom Büffelboden’s results are just about ready for you to explore, and, while she tested “Clear” for most of the risk variants that Embark screens (including all of those that are Frenchie-specific), she does have one copy of a mutation in the PDK4 gene and will be reported as “At Risk” for its associated disease, Dilated Cardiomyopathy, or DCM.

I want to emphasize here that this mutation most likely confers a relatively low risk for Lucy, for three reasons:

First, most of the research on this mutation has focused on purebred American Dobermans, a breed strongly predisposed to developing DCM. There is no published data that supports the association of this mutation with disease in other breeds of dog.

Second, even in Dobermans, this mutation is not 100% predictive that a dog will go on to develop DCM. Not only does it have incomplete penetrance, there are other mutations, some known and some unknown, that modulate the effects of this mutation.

Third, small breed dogs like the French Bulldog are not a high risk population for DCM, but have the PDK4 mutation at some frequency. This suggests that this mutation must be modulated by breed-specific factors, and confers a relatively low risk in these breeds.

That being said, because there are no data that support or disprove the risk-potential of this mutation, we do report it as an “At Risk” result. If you have recently had Lucy’s heart evaluated by a veterinarian, please do let me know: As a research company, Embark is always striving to deliver the most accurate results, and hopes to contribute to existing information about this mutation in other dog breeds besides the Doberman.

Please do not hesitate to contact me at chue@embarkvet.com; I am always here to answer any questions about your dogs’ results or about Embark in general. I am also happy to set up a time to talk on the phone.

Sincerely,

Erin

Erin T. Chu, DVM

Veterinary Geneticist, Embark Veterinary, Inc.

chue@embarkvet.com

So Lucy carries a gene linked to a cardiac issue in the Dobermann. In other breeds the gene pops up sporadically but there are no connections known for expression of the disease in these breeds. The gene does not stand on itself, there are other genes involved too to get the disease expressed in the Dobermann. With the explanation from DVM Erin we are confident that this genetic abnormality is safe. Of course we will make sure that partners will be tested and will be ‘Clear’. Just to be safe.

Furthermore Lucy is a carrier of Degenerative Myelopathy (DM). Carrier means she will never get the didease herself but she can pass carrier to her offspring. When she is combined to a partner that is tested ‘Clear’ the disease will never express itself.

There are about 175 diseases tested. Lucy tested ‘Clear’ on all other tests. We are very happy about that!

There are also some external features and colours tested as part of the package. This shows that Lucy is a carrier of the pied-gene and that she is capable of producing fawn puppies with the right partner. She also carries the colour Cream. With the right partner she can produce every standard colour.

On Lucy her own page are the testresults are put under the tab ‘Health test results’.

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