DNA test - Lafora's disease

Details about the disease

Lafora’s disease is caused by a mutation in a gene which encodes for an enzyme involved in the breakdown of carbohydrates. Early data suggests that these enzymes prevent nerve cells from accumulating too many carbohydrates. A characteristic feature of the disease is accumulation of toxic starch-like material within cells, particularly nervous, liver and muscle tissue.

Clinical signs

Clinical effects of Lafora’s disease include rapid shuddering or jerking, which may be spontaneous or as a result of loud noise, flickering lights or sudden movement. Clinical signs typically occur in animals over 5 to 7 years of age and may progress slowly over many years. The disease progresses slowly over many years and gradually other neurological problems such as ataxia (loss of control of movement), blindness and dementia 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 Lafora's disease 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
Laboklin (UK) Phone: 0161 282 3066
Email: Laboklin
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:

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
Genomia (Czech Republic) Email: Genomia
Web: www.genomia.cz

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:

How to responsibly breed from your DNA-tested dog

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.