Details about the disease
It is one of a number of lysosomal storage diseases. Lysosomes are structures within cells that are responsible for breaking down and recycling unwanted cellular components and produce a number of key enzymes that are involved in this recycling process. Mutations in specific genes affect the efficiency of this process and cause the accumulation of intermediate chemicals to levels that can be toxic to cells, particularly to neuronal (nerve) cells. This leads to progressive neurodegeneration (degeneration of brain and eye cells) and results in severe neurological impairment and early death.
Clinical signs
Affected dogs appear normal at birth, but begin to exhibit clinical effects early in life – around 1-2 years of age. The age of onset and severity of the disease can vary greatly among individuals. The clinical effects include progressive motor decline with seizures and loss of coordinated muscle movements, cognitive decline (decline in mental processes such as learning, memory and attention) and abnormal behaviour. Visual impairment may occur.
How is it inherited?
The disease is described as an autosomal-recessive condition. This means that a dog must inherit two copies of an abnormal gene (one from its mother and one from its father) before its health is affected. A dog that inherits only one copy of the abnormal gene (from its mother or its father) will have no signs of the disease, but will be a carrier and may pass the gene on to any offspring.
Which laboratories test for this condition?
Two lists of laboratories that test for NCL12 can be found below.
Laboratories that send a copy of your dog's results straight to The Kennel Club, so you don't have to.
| Laboratories | Contact details |
|---|---|
|
Kennel Club CombiBreed (UK) Available as part of an all-on one health test package for Tibetan Terriers. |
Read more about CombiBreed |
| AHT (UK) | The AHT closed down on 31 July and no longer offers this test. Web: www.aht.org.uk |
| Animal DNA Diagnostics | Phone: 01223 395577 Email: Animal DNA Diagnostics Web: www.animaldnadiagnostics.co.uk |
| Animal Genetics (UK) | Phone: 01726 247788 Email: Animal Genetics Web: www.animalgenetics.eu |
| Laboklin (UK) | Phone: 0161 282 3066 Email: Laboklin Veterinary Diagnostic Laboratory Web: www.laboklin.co.uk |
| Pet Genetics Lab (UK) | Phone: 01624 679 720 Email: Pet Genetics Lab Web: www.petgeneticslab.co.uk |
Where will your dog's results be published?
DNA test results from these laboratories are sent directly to The Kennel Club and are recorded on to the dog's record in the registration database, and are published:
- in the next available Breed Records Supplement
- on our Health Test Results Finder
Laboratories that do not send a copy of your dog's results to The Kennel Club. You'll need to do this yourself.
| Laboratories | Contact details |
|---|---|
| Genindexe (France) | Email:
Genin dexe
Web: www.genindexe.com |
| Genomia (Czech Republic) | Email:
Genomia Genetic Laboratory
Web: www.genomia.cz |
| MyDogDNA (Finland) | Email:
My Dog DNA
Web: www.mydogdna.com |
| OFFA | Email:
Orthopedic Foundation for Animals
Web: www.ofa.org |
| Pet Genetics Lab | Phone: 01624 679 720 Email: Pet Genetics Lab Web: www.petgeneticslab.co.uk |
| Van Haeringen (Holland) | Email:
Van Haeringen Genetics
Web: www.vhlgenetics.com |
How to submit DNA test results to The Kennel Club
The laboratories listed above do not send your dog's DNA test results to The Kennel Club. To have these results placed on your dog's record please submit them yourself by scanning and emailing them to our health results team.
What we require on the results certificate
Please note that we require at least two forms of identification on the result certificate. These must include the dog's microchip or tattoo number along with either the dog's registered name or registered number. Results without these details cannot be accepted by us.
Where will your dog's results be published once you have submitted them?
DNA test results received by The Kennel Club are recorded on to the dog's record in the registration database, and are published:
- in the next available Breed Records Supplement
- on our Health Test Results Finder
Breeding advice and what your dog's results mean
If, once your dog is DNA tested, you would like to find out what their DNA test results mean, or how to select the right mate to avoid producing affected puppies, then please read our breeding advice and DNA testing information.
How to find out if a potential mate has been DNA tested
The Kennel Club’s Health Test Results Finder allows you to find the results of DNA tests carried out as part of The Kennel Club's official DNA testing schemes for any dog on The Kennel Club’s Breed Register.