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N E W S L E T T
1/2009 E R
EIC - LABOKLIN acquires an exclusive license for European countries
Exercise Induced Collapse (EIC) is a neuromuscular disease affecting Labrador Re-trie vers and closely related breeds. Affected animals develop signs within 5 to 15 mi-nutes after start of intensive training or stress. Typical signs are weakness of muscles and collapse thus sometimes resembling epileptic fi ts or even myasthenia gravis. Even though age of onset is reported mostly to be the early adult age EIC can stay a hidden disease as long as no intensive training is carried out and stress to the animal is limited. Up to now the mutation is detected in Labradors as well as in Chesapeake-Bay and in Curly-Coated Retrievers. Just recently a mutation in the DNM1 gene was recognized to be responsible for the disease. This work was done by Professor James Mickelson and his coworkers at the University of Minnesota. Professor Mickel- son kindly agreed to pass on an exclusive license to LABOKLIN for Europe so we can offer the test now for all animals GM2 – Gangliosidosis
GM2 Gangliosidosis is a storage disease similar to Sandhoff disease in humans in which an enzymatic defect results in intracellular (lysosomal) accumulation of lipids. Dear pet owner,
Affected animals will most prominently show clinical signs of neurologic disorders like head shaking, impaired coordination of leg movement resulting in paralysis. In GM2 Gangliosidosis an early onset is reported often beginning at the age of two months and characterized by rapid progression. especially to you - to pet owners, resp. breeders of dogs and cats.
The mutation in the HEXB gene responsible for the impaired enzyme action in GM2 Gang liosidosis in Burmese cats is identifi ed now as result of intensive work by Dr. Douglas Martin and his fellow scientists at Auburn University. Thus a genetic test to identify affected – and more important - carriers is at hand now. LABOKLIN has an ex- clusive license at hand to carry out the genetic tests throughout Europe. By now the test is performed routinely - please contact us in case you need more information.
data e.g. on availability of tests as well as on clinical relevance, hand- Buccal swabs- suffi cient for genetic tests?
ling procedures and turnaround times.
Buccal swabs are a preferable sampling device whenever you want to test e.g. very young animals. Quite often we are asked if there is any loss of reliability when tests are performed using buccal swabs. Indeed that is not the case. Evaluation of our data show, in 2008 we were able to achieve a result in 99,93% of buccal swabs from cats and > 92% of swab taken from cats. Thus buccal in our hands are appropriate samples. What can be affected, when swabs are taken instead of blood samples? This is a constant worry of pet owners as well. As all tests for hereditary diseases are based on analysis of DNA the sample has to contain suffi cient DNA, that is suffi cient number of cell nuclei. That is always the case in blood samples and almost always in swabs (see above). So, swabs are as good as/nearly as effi cient as blood samples. In case we do not get suffi cient amount of DNA to work with we will obtain no result at all. We will report that we could not obtain a result. So with swabs there is no insecurity in the obtained result at all - there is only a slight risk in having to send a second sample.
D-97688 Bad Kissingen · Steubenstraße 4 Tel. +41 61 3196060 · Fax +41 61 3196065 Tel. +43 732 717242 · Fax +43 732 717322 N E W S L E T T
1/2009 E R
Highest possible quality standards performed by LABOKLIN
Highest possibly quality standard has always been our goal. Consequently of course we work according to DIN EN ISO/IEL 17025, thus are subject to external control at regular intervals and all processes can be subject to inspection at any time. We top that by routinely processing our samples in duplicates. Only results approved by an independently performed second run will be reported to the customer. And of course we are member of the International Society of Animal Genetics (ISAG) and design and perform check studies with other labs to round up our control scheme. Since we are member of the ISAG DNA profi les for identity and parentage tests are per formed using the markers recommended by ISAG. This means: every profi le estab-lished by us can be used for any comparison with any profi le established by any other lab using ISAG markers. This is especially interesting when breeding across the borders results in parents with profi les run by different labs in different countries. Our special service: once we have run a profi le we store DNA without additional costs for 10 years. So in case there is additional test demand (e.g. a new test for a hereditary disease is established) you do not need new samples to be taken. If needed DNA data bases can be established as well.
An update on MDR1 gene defect
MDR for dogs
Side effects to Ivermectin which is widely used for cont- rol of ectoparasites are known to be caused by a defect in the multidrug transporter MDR1 situated in many cell mem- branes. Due to a mutation in these animals the transporter looses its ability to hold back substances like Ivermectine, Loperamide just to name some of the drugs affected resul-ting in accumulation in the brain. While treated with these drugs affected animals will show signs of intoxication. Only intensive treatment and supportive care can prevent death. A list of substances that are suspect to be transported by the same carrier and thus will probably accumulate in the brain of genetically affected animals despite state of the art dosage is listed on our website www.laboklin.de. Also we have listed the breeds today known to be affected and the percentage of animals carrying the mutation. Of interest should be that as long as alternative therapeutic concepts are used even the affected animals can live a perfectly heal-thy life. Knowledge of the status in animals of these breeds will help choosing the appropriate drug in case of any disease. Furthermore there is evidence that even animals reported to be just carriers will have a reduced effi cacy of the drug transporter MDR1 resulting in slightly impaired mem brane barriers.
D-97688 Bad Kissingen · Steubenstraße 4 Tel. +41 61 3196060 · Fax +41 61 3196065 Tel. +43 732 717242 · Fax +43 732 717322

Source: http://www.laboklin.ee/geenitestid_files/Laboklin_newsletter-1_09.pdf

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