THERE IS NOW A DNA TEST FOR EPISODIC FALLING SYNDROME
PLEASE FOR THE SAKE OF OUR BELOVED BREED TEST YOUR CAVALIERS FOR EPISODIC FALLING SYNDROME
This video was created by Animal Health Trust, who did so much to get the DNA test sorted after funding was raised by founder members of this website.
WHY TEST FOR EPISODIC FALLING SYNDROME?
In 2012 scientists at the Kennel Club Genetics Centre the Animal Health Trust undertook a study to measure the frequency of the mutations responsible for curly coat/dry eye syndrome and episodic falling in Cavalier King Charles Spaniels in the UK. Out of 224 dogs tested, 19.1% were found to be carriers of the EFS gene.
More information on the test can be found at:
on the Episodic Falling page.
Advice from Dr Mansour Makki of Labokiln UK on submitting a DNA test
I emailed Labokiln UK and asked the following questions,
Could someone answer a couple of questions for me please, for the group.
Can people from abroad post test samples to you - for blood and swab?
Is blood or swab better for EF diagnosis - and what's the difference?
Do you post swabs abroad for the EF test when people buy your test, and is there an extra charge for postage?
Dr Makki replied
Thank you for your email.
Of course we send kit abroad all the time and there are no additional charges.
We offer many DNA tests in CKCS including two test bundles which covers the most important tests at competitive pricing.
A full list of DNA tests available for CKCS is available at the following link:
If you have any questions please do not hesitate to contact me. For genetic testing we require a DNA sample, this can be either 0.5-1 ml of whole blood in EDTA blood tube, or buccal swabs.
For Lafora Disease DNA test we will only accept blood in EDTA blood tube. (this is the only DNA test which cannot be performed from swab sample)
Blood must be collected by a veterinary surgeon whereas buccal swabs maybe used by owners.
There is no minimum age for using blood. Buccal swabs can be used about a week after the animal is weaned from the mother, this is to avoid DNA cross contamination.
Before using swabs the animal must be separated from other animals and must not be fed for few hours, best time maybe in the morning before the animal is fed.
We supply both EDTA blood tubes and buccal swabs free of charge, you can order sample collection materials from the following link: http://www.laboklin.co.uk/laboklin/dispatcher.jsp?section=Downloads&subID=RequestMaterials
You will receive a testing kit with instructions on how to use buccal swabs to collect DNA sample from the mouth.
Samples should be sent to our Manchester address below.
More information is available on our website http://www.laboklin.co.uk
If you have any questions please do not hesitate to contact me.
With kind regards
Dr Mansour Makki, DVM MSc MRSB
Laboratory For Veterinary Diagnostics
125 Northenden Road
Tel: 0161 282 3066
Fax: 0161 973 3434
PDF instructions on what is required for the DNA test
The most important reason to test your Cavalier if you even think that he might have EFS is that you want to have the information ready if your Cavalier takes a turn for the worse and the symptoms become more severe. You don't want to wait for the DNA test when you want to medicate immediately.
We owe it to our beloved Cavalier breed to test. Cavaliers have such a small gene pool that being a ‘carrier‘ does not mean that the dog should not be bred now that we have the test. For example, if it has a good heart, your Cavalier can be responsibly bred to a ‘clear’ dog without risk of creating EFS puppies. Again, testing will let us know which puppies are carriers and must be bred with caution or neutered and put in pet homes.
While generally EFS Cavaliers show symptoms between six and twelve months, there have been reported cases where the initial symptoms did not appear until years later or go unnoticed at all.
Acquiring a puppy with EFS can be devastating to new owners. By the time EFS exhibits symptoms the owners have fallen in love with their Cavalier and seldom give it up. This means many years of dealing with the symptoms of EFS.
THE GENETICS OF EPISODIC FALLING SYNDROME
Episodic Falling Syndrome is caused by a simple recessive gene. Since each parent has a set of two genes there are three possible combination of genes for EFS:
1. A Cavalier with two EFS genes will almost certainly show EFS symptoms and will be ‘affected’ although sometimes dogs have two EFS genes and no symptoms.
2. A Cavalier with one EFS gene and one normal gene will be a ‘carrier’ and will never display symptoms. A carrier Cavalier however will be able to pass on EFS.
3. A Cavalier with two normal genes and is said to be ‘clear’ and will not pass down EFS genes to it’s progeny. It does not have the gene for EFS.
How carriers pass on Episodic Falling Syndrome
By definition a carrier has one EFS gene and one normal gene.
Carrier to Carrier: If a carrier is bred to another carrier then each time a puppy is conceived it will have:
A 25% chance of being affected.
A 25% chance of being clear.
A 50% chance of being a carrier.
If we test all breeding Cavaliers we can avoid this dangerous situation.
Carrier to Clear: If a carrier is bred to a clear dog then each time a puppy is conceived it will have:
A 50% chance of being a carrier.
A 50% chance of being clear.
No puppies will be affected.
If we test all breeding Cavaliers, we can ensure that puppies from otherwise healthy carriers will not be affected.
Carrier to Affected: If a carrier is bred to an affected dog then each time a puppy is conceived it will have: