Wire Haired Dachshund Club


 Lafora Update 17th April 2013


We held our second blood testing day on 17th April at the Poole House Veterinary Hospital , Lichfield, Staffs.WS13 8JY. It ran like clockwork and the veterinary staff were wonderful. In total we tested 45 dogs and the samples have been sent to Dr Minassian’s laboratory in Toronto.


By sheer coincidence we received an email from Dr Minassian during the late afternoon of the testing day, and here is what he told us.


WE HAVE IT !!!!!


Our new, older, technician, Hang Li, got the old forgotten Southern blot technique to work to perfection. We now have a wonderfully reliable test to distinguish wild-type (clear) from carrier from affected. Attached is an example of one of the Southern blots. You will see how beautiful and clear the test is.


We are all extremely pleased and grateful to Dr Minassian and his team for their hard work in perfecting this so that we can breed healthy dachshunds with confidence. The test will only be offered on blood (between 5 and 10 mls ideally)


When we have confirmation of the turnaround time from Dr Minassian, we will organise another testing day at the same venue – we expect this to be late June / early July and we anticipate being able to offer 60 tests on that day. If we have additional demand, we will book another summer testing day.


Dr Minassian has quoted us 300 Canadian Dollars per test (approximately £190). As we still have funds available supporting this project, we are still able to offer some subsidy. We will announce the actual fee people will need to pay nearer the time, as there is still some analysis to do on making sure we can test as many as possible, whilst offering support via the subsidy.


In the meantime, breeders can continue to use the information on the Wire Haired Dachshund Club web site – www.whdc.co.uk to check the status and background breeding of animals they are considering for use in their breeding programmes.


We will post any new updates here – thank you for your continued patience.


 

Lafora Update 6th February 2013

Since our last update, Dr Minassian has engaged an additional Research Assistant, which should speed up the perfection of the new (old) Carrier test method that will give us an acceptable turnaround time and cope with the volume.

In the meantime, Dr Minassian and the laboratory team in Canada, are willing to accept blood samples for affected / unaffected tests, through the Lafora Group. The cost for the affected / unaffected test is £80. The blood samples will be retained so that, for those who want it, the dna can be used to subsequently carry out the new (old) Carrier test when it is up and running (there may be an additional cost for this).

To move this forward, we have organised a Testing Day on Wednesday 17th April 2013. The first people to be invited will be those who are still waiting for an affected / unaffected result from the Centogene testing. Then those requests that we have received whilst we have been waiting for the go ahead from Dr Minassian. Requests for new affected / unaffected tests need to be made either to:

Sue Holt -

susan.holt@talktalk.net

or

Nora Price-laforatesting@mypostoffice.co.uk

If the demand for the Testing Day on 17th April is greater than we can cope with in one day, we will organise an additional day and post details on the Wire Haired Dachshund Club website. Sue and Nora will be in touch with those who have already made requests, to confirm details and get the relevant forms completed.

The testing day will again be held in the Midlands at the Poole House Veterinary Hospital , Lichfield, Staffs.WS13 8BY. We will allocate time slots as we co-ordinate requests.

In the meantime, breeders can use the information on the Wire Haired Dachshund Club web site www.whdc.co.uk to check the status and background breeding of animals they are considering for use in their breeding programmes.

We will post any new updates here – thank you for your continued patience.

 

Lafora Update 23rd July 2012

 

Since our last update, we have received additional communication from Dr Minassian and his team in Canada, confirming that the testing is continuing to prove very difficult.  He explains the difficulty with the current method of testing (Polymerase Chain Reaction).

“All modern methods rely on PCR, which amplify the segment of the mutation to detect, in this case, the expanded abnormal copy.  This is very difficult in this case because the expansion is a massive repeat of the same nucleotides (letters of the code), and these nucleotides are the G's and C's which when repeatedly expanded like this make PCR very difficult.  We are therefore in each case having to use extensive control experiments and numerous repeats to get the result we trust.  We can continue doing this, but things will remain slow.


We have therefore decided to regenerate an old technique that does not rely on PCR and that therefore obviates all the above problems.  Few people around know this old technique, since PCR took over practically all experiments with DNA.  The old technique is called Southern Blot.   It is perfectly suited for this case.  XiaoChu used to do this technique many years ago before PCR became dominant.  She is able to revive it, and she is working on it.


I have concluded that for the longer term it would be best to establish this new (old) technique.  Though it is on the surface a slower method than PCR-based methods, given the special problems of PCR in our current testing, it will end up being much faster than our turnaround now given the countless repeats and controls we have to do now.”

He goes on to confirm that the completed tests done in the initial control sample, are robust results, but the length of time taken to achieve them was due to the above issues.

Therefore, we are awaiting news that the new (old) method of testing is ready.  As soon as we receive that, we will start to invite test submissions, as outlined in our previous update.

We are aware that the waiting is frustrating and thank you for bearing with us.  For the long term, we want a test that is robust, reliable and the fastest turnaround possible and this early development work will give us that.

 Update 10th June 2012


Canada


The tests on the trial set of samples sent to Canada are now complete. The team was able to identify affected, clear and carrier animals from blood and successfully achieved the same findings on saliva. The results are posted below. The ratios are consistent with earlier findings.


Prior to the test going live, the Canadian team want to complete some further tests to ensure saliva findings will be robust. Quote Dr Minassian.


I am analyzing the saliva and blood data we already have and some more experiments in progress carefully with the team to assess whether we are ready for exclusively saliva work at this stage or not. I will write you soon, at which time I will also answer all the financial questions past and future.”


As soon as we have heard from Dr Minnassian whether testing can go ahead exclusively on saliva or whether blood samples are required, what the lab test prices will be and how many samples the laboratory can process at one time, testing can resume. We will post an update here, including any details of additional charges although we will do our utmost to avoid / minimize these. We will invite any previously tested with Centogene, who wish to have a full spectrum test, to submit samples in the same order that those tests were submitted to Centogene. Those who are parents or progeny of Affected animals, if tested Unaffected by Centogene, will not need another test – they will be Carriers.


We expect this to be within the next two weeks. We will place an update here and contact individuals who confirm they want a full spectrum test, in date order to invite them to submit samples (or organise blood testing if needed)


When all those from the Centogene cohort have had a full spectrum test, should they choose to, we will then invite new animals to come forward for testing.


Centogene


Centogene confirm that they are unable to obtain reliable carrier results from saliva. They have sent us the majority of results for affected / unaffected now and the spreadsheet on here is now updated. It is not looking likely that Centogene will be able to use saliva for full spectrum testing in the near future. There are 12 results still outstanding form Centogene. If they are not forthcoming, we will request these owners to be in the first cohort for testing in Canada.


Breeding Advice


Now that testing can identify carriers, it will be simpler to avoid producing affected animals. The advice remains the same. Avoid using Affected animals wherever possible, if using Carriers only mate to a tested Clear and then ensure progeny is tested and new owners informed if animals are carriers.





 Statement/Update on Progress on the Canadian Lafora Testing 

9th March 2012

As you’ll be aware the Canadian Lafora Research Team have requested a set of blood and saliva samples plus pedigrees from within the group of dogs that had previously been submitted for testing by Centogene. The reason for this is that they are hoping to perfect a saliva test by comparing results from a new testing procedure with their proven blood test, which they have recently reinstated. The WHDC Lafora Sub-Committee has been made aware of rumours/misinformation circulating and felt it was important to set the story straight.

How was the sample group selected?

Because the Lafora Sub-Committee is extremely aware of the huge frustration amongst owners awaiting test results due to the delays caused by the Centogene situation, it was agreed that this initial blood sample testing stage should be completed quickly in order that we could get back on track as soon as possible. We were already aware of a small group of breeders and owners who had offered, if/when the blood test was reinstated, to bring their dogs to one central location where a single vet could collect both blood and saliva samples. The cohort of dogs chosen includes dogs that are known to be Affected, those deduced to be Carriers by pedigree analysis and some we hope will be Clear (again from pedigree analysis).   We appreciate the offers from several breeders to have their dogs included in this research trial and we now have a sample of dogs that meets the requirements on the Canadian lab.

When will the sample testing be complete?

The Canadian Laboratory has requested that saliva samples are taken using a specific brand of testing kit which they have used successfully previously. These have been ordered in sufficient bulk to test the first sample batch and any other dogs from the full test group that may need testing. These are currently being shipped, special delivery, direct from a Canadian medical supplies company. The intention is that the blood sampling of the 35 dogs will take place on 21st March and the Canadian Team have indicated that the results should be available approximately 3 weeks later.

What will the costs be for future testing and will there be an impact on the number of dogs that can be tested under the UK Lafora Testing Programme?

The intention has always been that funds contributed by the various breed clubs and the Kennel Club Charitable Trust would be used to subsidise the research and testing of as many dogs as possible within the 2 year period of the Lafora Testing Programme. The primary reason why the Centogene saliva carrier/clear testing was initially selected was a: it was offered at a cheaper price than the Canadian team were offering the same test; b: saliva sampling is cheaper and more convenient for owners to use than bloods c: the Canadian carrier/clear blood test was not then available and they had requested £24,000 in order to reinstate it , and d: as a research Lab, the Canadians originally said they couldn’t provide certification, but Centogene as a testing lab could. The Kennel Club indicated that they would require certificates to consider making the Lafora testing a requirement for their Assured Breeder Scheme.


Affected/Unaffected Test Prices

The Canadian team has not yet given us a price for the affected/unaffected test as they wish to see if they can perfect the Clear/Carrier test first. We are working on the assumption that a Canadian Affected/Unaffected saliva test will cost the same as in 2010 (i.e. £80, with owners paying £50).

Carrier/Clear Test Prices

If the Canadians perfect the carrier/clear saliva test, we hope that the price will be within a similar range to that quoted by Centogene (i.e. £120), although we are still awaiting confirmation.

If the Canadians succeed in identifying Carriers from saliva, those people awaiting results from Centogene will instead have their tests completed in Canada (at no extra cost). If we can only identify Carriers by blood tests, not everyone will need to have this done; it depends on the known status of parents/offspring - for some, an affected/unaffected saliva test will be adequate. In either case, the Canadians have now indicated that they can provide certification.



There have been some rumours circulating that the carrier/clear blood test may cost as much as £250. We would like to make it clear that we are still awaiting confirmation of a final price from Canada for this blood-based test. For the initial sample group of dogs, the Canadians are charging the Lafora Testing Programme £160 per dog, plus the cost of kits (£10), shipping and vets fees (one vet). We anticipate that when tests are done in greater bulk, the charge per dog is unlikely to be higher, hopefully significantly less. Again, it is anticipated that the Lafora research fund will be used to subsidise the fee charged to owners, although they will have to meet their own vet fees for taking the bloods.

The decision on the level of subsidy will be a balance between making the test as affordable as possible and maximizing the number of tests that can be subsidised over the 2 year funding period.

Will my dog be eligible for subsidized testing in Canada?

All dogs that have been submitted for testing so far will be eligible to take advantage of the subsidised testing programme in Canada, although as explained above not all dogs will need retesting. Saliva swabs are still being accepted. These will be tested, along with those remaining from the German programme, as soon as the initial research with the blood/saliva is completed by Canada.




 

Lafora Update February 2012

Following the confirmation from Centogene, that they were not able to continue with our testing due to technical difficulties, we asked Canada to see if they could detect Carriers from the saliva provided by Centogene.  This was not possible, due either to the age and deterioration of the dna or due to the fact that the test is still not possible on saliva samples.

To move forward, Canada are using their new carrier / clear / affected test on 35 blood samples, covering known Affecteds, known Carriers and presumed Clears.  Saliva from the same 35 dogs, is also being tested, to see if it is possible to perfect a saliva carrier test.

All other samples are on hold, pending the outcome of the above tests.  To perfect a saliva carrier test is proving extremely complex and we are very grateful for everyone’s support and patience whilst the research is being completed.

The breeding advice remains that:

·         It is not advisable to breed from Affected animals

·         Through pedigree analysis, endeavour to use assumed “clear” animals on known carriers, therefore reducing the risk of producing affected animals

·         Carrier to carrier matings WILL produce some affected stock (refer to the guide on this site) and therefore these matings are not desirable.  All puppies form such matings should be tested to determine their Lafora status, so that new owners can be informed

Swabs are still being accepted.  These will be tested as soon as the initial research with the blood / saliva is completed by Canada

Any queries / enquiries, please contact any of the team, details on the January update.  Updates and results can be found at http://www.whdc.co.uk

 

 Lafora Testing Overview and Update as at 21st January 2012

As you are all aware, Centogene have had major difficulties completing the testing on the samples we have sent so far. Because of the considerable delays, we have decided to ask the Canadian research facility if they can complete all the swabs we currently have, and for future testing. We are in discussion with Canada to finalise costings, timescales and the possibility of a blood or saliva based carrier test. In the first instance we aim to have a complete set of affected / unaffected results from the swabs sent in so far as soon as possible.

We would like to thank you all for your patience and confirm that we are doing everything we can to get the tests turned around within as short a timescale as possible. As soon as we have any news at all, it will be published here. Individual queries can be directed to any of the team members.

Nora Price:

laforatesting@mypostoffice.co.uk

Sue Holt: Susan.Holt@talktalk.net

Nina Dible: poodax@supanet.com

Gill Key: gillkey@btinternet.com

Ian Seath: ian@sunsong.co.uk


 Lafora Testing Overview and Update as at 16th January 2012

Introduction:

We are really grateful to everyone for their patience over the past few months and also for the high level of commitment shown by MW owners. We will continue to provide regular updates on progress and our analysis of pedigrees, but any of the team are willing to answer questions at any time. We are happy to offer information and advice about known carrier / affected animals based on our analysis of pedigrees, to support positive breeding practices and reduce the incidence of the disease.

Results:

Despite a promise that we would have all results by 16th January, Centogene have to date not issued all of them. Everyone currently waiting for a test result will be informed of their results as soon as possible when we receive them and the database available at the WHDC website will be updated. We have had 9 new results, 8 unaffected and 1 new affected.

At present, we have test results from 173 dogs, we have identified 22 that carry two copies of the Lafora mutation and are therefore “Affected”.

Carrier Test:

Despite extensive trials, Centogene have not been able to perfect the carrier test on saliva swabs. However, the laboratory will now trial the test on blood samples and we will report back here on the success of that.

We are also currently discussing with the Canadian team the possibility of them having a certificated, reinstated blood carrier test. They are also pursuing research into a saliva carrier test.

Although it is disappointing that the carrier test has not so far been possible, the value of the affected / unaffected testing cannot be under-estimated. This information enables us to be certain that all parents and progeny of affected animals will be AT LEAST CARRIERS and if these parents and progeny are tested as unaffected there will be no further need for tests, all of these WILL be carriers.

We are continuing to compile a database of information about dogs tested as affected and those clinically diagnosed as affected, so that we can gain as wide a picture as possible. We plan to identify their parents and all progeny, so that we can build our knowledge of the carrier population, whilst waiting for a full carrier test to be up and running. As soon as it is available, we will publish details of what will be needed to complete a full carrier test.

It is still advantageous to do a saliva swab for affected / unaffected in the first instance, particularly now that we have test results and /or pedigrees for 300 dogs and especially if there is evidence of affected or carrier dogs in their background. This applies equally to both breeding stock and dogs that are not, as early diagnosis of the condition means that dietary changes can be made that may affect the severity of onset in dogs identified as affected.

For many people, given the large number of results we now have, it may not be necessary to opt for a blood-based carrier test. However, if a dog is unaffected from a saliva test and not a direct descendant of an affected dog, then the blood test will be needed (at present) to identify its carrier status.

Costs:

The test was priced at £80 for “new” dogs tested and £30 for those that had already been tested for affected / unaffected in Canada during 2010. As a result of the funding we have received and renegotiating costs with Centogene, we are able to offer the current test at the same price as the 2010 Canadian test. People can request £30 refunds or leave the funds “in the pot” for a carrier test when available, or to go towards a second saliva test.

This will be dealt with on an individual basis, so please contact the Coordinator after 31st January to discuss your preference. Please note that Nora is on holiday from 13th to 27th January.

Breeding:

In the absence of a full carrier test, the advice on breeding remains that:

It is advised NOT to use affected animals for breeding.

Through pedigree analysis, endeavour to use assumed “clear” animals on known carriers, therefore reducing the risk of producing affected animals.

Carrier to carrier matings WILL produce some affected stock (refer to the guide on this site) and therefore these matings are not desirable. However, if breeders choose to mate two known carriers, all puppies from such matings should be saliva tested so that their new owners can be told their Lafora status.

We are also working to see if we can develop a statistical model that, based on the test status of dogs and their ancestors, should calculate a predicted risk level for prospective matings.



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