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This was copied from another popular retriever website, which contained express permission to post to other websites:

"For those not yet aware, a new (potentially serious) genetic condition is being investigated. Although it is particularly concerning to the owners and breeders of US field dogs, it has been identified in a N. American show dog and in a Russian bench dog. This condition is present in other breeds, but only recently become apparent in goldens. The condition is known as Neuronal Ceroid Lipofucinosis or NCL. It is nasty. Affected dogs begin to show clinical signs around 18 mos and by 2 their quality of life is such that they must be put down. Clinical signs are loss of sight, confusion followed by loss of motor skills and eventual paralysis.

"Fortunately it is a recessive gene and dogs are characterized as clear, carriers or affected. Breeding a carrier to a clear will NEVER result in an affected dog, but carrier to carrier could result in affected pups and potential heartbreak. As such, I believe it is extremely important for a large portion of the field golden population to be tested, much in the way we have been testing for ichthyosis. This is potentially far more devastating than a skin disorder. Even if you do not plan to breed your dog, it is still important to test as your dog's test can potentially identify carriers among your dog's progenitors and give researchers a larger sample pool to work with.

"Even as a rare condition, there are a few very well know dogs who have been identified as carriers. There is no reason whatsoever to avoid these dogs as part of a breeding program. Avoiding these dogs and other carriers would further tighten our already too tight gene pool. Intelligent decisions can be made with a simple test of the sire or dam.

"In the US, although Paw Print and Optigen are working to license the test, only the University of Missouri, Columbia has a test for the golden variant (CL5). The test costs $65 for a dog not displaying clinical signs. If you have the test done, please, please, please add your results to k9data.com (user managed web site for golden pedigrees) A searchable field has been added for the NCL variant."
 

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Actually, Embark also offers the genetic test for this as part of their Golden Retriever panel.

https://shop.embarkvet.com/products/embark-for-breeders-dog-dna-test-kit?_ga=2.264716687.1404472318.1547511814-1860368681.1540265569

“Neuronal Ceroid Lipofuscinosis (CLN5 Golden Retriever Variant) Embark SHOW MORE…
Multisystem (Multisystem)
Gene: CLN5 (Exon 4 Deletion)
Inheritance type: recessive
This form of lysosomal storage disease can cause juvenile to adult-onset neurologic signs, depending on the affected gene. While lipofuscin is commonly observed in the tissues of aged animals, dogs with NCL show an inappropriate accumulation of lipofuscin in the cells of the retina and the brain as early as 6 months and as late as 6 years, depending on the gene affected. Common symptoms reflect central nervous system malfunction and include partial or total vision loss, behavior changes, abnormal gait, and seizures. Symptoms usually progress slowly over time. While gene therapy trials in mouse models have proven promising, these are far from being used in the clinic.

A mutation in the CLN5 gene has been identified in Golden Retrievers with NCL. CLN5 codes for a protein important for the function of other lysosomal enzymes. Golden Retrievers with this form of NCL are reported to develop neurologic signs at 15 months of age.

Citations

Gilliam et al 2015”
 

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The easiest way I found was to go to OFA.org and click on DNA tests and follow the links. The staff will send you a kit and instructions to collect the DNA using a cheek swab and barcoded card-the card with the sample applied to it goes to the U of Missouri for testing and the OFA report back to you. This came from Liz Hansen at the University of Missouri Animal Molecular Genetics Laboratory.
 

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Discussion Starter #4
The easiest way I found was to go to OFA.org and click on DNA tests and follow the links. The staff will send you a kit and instructions to collect the DNA using a cheek swab and barcoded card-the card with the sample applied to it goes to the U of Missouri for testing and the OFA report back to you. This came from Liz Hansen at the University of Missouri Animal Molecular Genetics Laboratory.
That's great! I had heard that it required a blood sample.
 

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It does give you pause on some of the young pups that died that I’ve known. Sometimes the diagnosis was cancer or seizures or something else undefined. Maybe it was NCL all along.

Now that NCL is a searchable field on k9data, I am sad to see the dogs that are listed as carriers. Already it’s so hard for breeders to find that right pairing with all the genetic tests already available. Now this will add more difficulty.
 

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Now that NCL is a searchable field on k9data, I am sad to see the dogs that are listed as carriers. Already it’s so hard for breeders to find that right pairing with all the genetic tests already available. Now this will add more difficulty.
Fortunately, it's recessive ... so with conscientious breeding, it can be bred out without eliminating the desirable genes that accompany the undesirable ones.
 

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Kate
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I wonder if this could be the underlying cause for many of the seizure issues this breed experiences. (Seizures are one of the symptoms this disease can produce.)
Thank you for saying this because I seriously have huge problems with yet a NEW genetic condition being discovered out of the blue. Where I stand right now, I have little to no interest in testing for this because I have not heard of any dogs related to mine having any seizure or other neural type problems.

However, if I knew of something - you bet I would be testing my dogs right now! And I'd have a cow about breeders not testing when they know there's been weird things in the lines that they are breeding.

I guess where I would test is if I were interested in getting my dog out there as a stud? (not something I would do). I had somebody not long ago asking after my Bertie's clearances. She was less interested in the fact he had full clearances and more concerned about ichy. I understand breeders who are breeding carriers wanting to make sure any boys they use are clear. Makes sense to me. Would gather that this new thing is going to fall under the same system.
 

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My two boys were tested a couple years ago via Embark. Both are clear, but I'm still going to do a couple of the girls with frozen semen behind them. I doubt my dogs have the gene, basing that on the fact I haven't lost any puppies under two to anything besides poisoning, choking, obstructions, hit by cars... in other words, obvious causes. But I figure now I've seen it is not a solely field pedigree issue, I should do the most recent frozen offspring who might reproduce... everyone else has had babies who are well past 2YO at this point.
 

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I was considering having the genetic panel done for my boy. I honestly haven’t decided what we are doing in the future other than obedience. I don’t have to wait until a certain age like I would for the other clearances, right?
 

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I was considering having the genetic panel done for my boy. I honestly haven’t decided what we are doing in the future other than obedience. I don’t have to wait until a certain age like I would for the other clearances, right?
Nope, you can submit DNA any time since it won't change. PawPrints is currently working on a test. If you need a full genetic panel I would go with Embark for now.
 

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Thank you for saying this because I seriously have huge problems with yet a NEW genetic condition being discovered out of the blue. Where I stand right now, I have little to no interest in testing for this because I have not heard of any dogs related to mine having any seizure or other neural type problems.

However, if I knew of something - you bet I would be testing my dogs right now! And I'd have a cow about breeders not testing when they know there's been weird things in the lines that they are breeding.
I believe this again is like Ichthyosis, something that has been with the breed since the beginning but a genetic screening test is becoming available now. The most common neuro problem this breed experiences is seizures. Seizures can arise from many causes but this could well be one of the causes. If it is, we can with this test get this under control very quickly.

Don't for one second believe this is limited to field pedigrees only. There are tested carriers already from non-field pedigrees.
 

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My Finch is probably pregnant - wondering if we should do the cheek swab or wait until the pups are on the ground to go in for a blood draw.



Since the testing is backing up and I have read priority is being given to tests for dogs who are related to known affecteds, perhaps waiting until the pups are born might be an option.



Are any of you testing retired studs & dams? If their puppies are still doing well beyond 2 years old?
 

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Following this question with interest. I'm not opposed to having Tito tested after the backlog of people breeding gets cleared up. But I'm not sure it's necessary. He's not being bred, so far none of the carriers are within his lines, and his youngest litter is over 2 and fine.



QUOTE=Sunrise;7694548]My Finch is probably pregnant - wondering if we should do the cheek swab or wait until the pups are on the ground to go in for a blood draw.



Since the testing is backing up and I have read priority is being given to tests for dogs who are related to known affecteds, perhaps waiting until the pups are born might be an option.



Are any of you testing retired studs & dams? If their puppies are still doing well beyond 2 years old?[/QUOTE]
 

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Since it is recessive, I think dogs who have been used at stud should be done at least.
That said, the ICT gene one of my girls has came from frozen semen use and I like frozen but I am planning to test the two girls from frozen even though they have siblings well over 2 YO.
 

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Kate
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Don't for one second believe this is limited to field pedigrees only. There are tested carriers already from non-field pedigrees.
Oh - I never said that or meant to imply that. I have not looked into the issue close enough to know which pedigrees have been openly affected this time.

Was just saying that I do not know any relatives with those kinds of problems. I know a lot of people with adult relatives of both my dogs.

Beyond that I spoke to a lot of show people with either relatives of my dogs or close enough over the past weekend about this issue and these are people who would not lie - especially in private conversations, and they had never heard of this disorder (neurological issues in very young dogs) at all.
 

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Are all Affected dogs symptomatic or is it too early to tell?

That is, can a dog who tests as affected live a full and healthy life?
 
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