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Manchester Terrier / English Toy Terrier DNA bundle (JDCM+vWD1+XanthenuriaII)
Test number: 8927
Price: £ 126.00 (including VAT) for all 3 tests
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1 ) Dilated cardiomyopathy ( DCM / JDCM)
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Breeds
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English Toy Terrier
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Manchester Terrier
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Nova Scotia Duck tolling Retriever ( NSDTR / Toller)
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Welsh Springer Spaniel
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Description |
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Dilated cardiomyopathy (DCM) is a disease of the heart muscle in which the left ventricle (the heart's main pumping chamber) becomes dilated and enlarged, causing the heart to weaken and fail to pump blood effectively.
A variant of the phospholamban gene has been found to be associated with symptoms of DCM in the Welsh Springer Spaniel breed, and a DNA test is now available from Laboklin. Phospholamban plays an important role in the regulation of intracellular calcium concentration and therefore in the contraction and relaxation of the heart. Left ventricular dilatation, poor systolic function, arrhythmia and sudden cardiac death are typical symptoms seen in affected dogs. Symptoms usually become apparent by 20 months of age. The disease is inherited as an autosomal dominant trait with variable penetrance. Compared to other canine heart diseases, dilated cardiomyopathy in the Welsh Springer Spaniel has a high penetrance, which means that dogs carrying the variant are very likely to develop the disease when they reach the age of onset.
In Manchester Terrier, the disease is known as Juvenile Dilated Cardiomyopathy (JDCM) and it is found to be associated with an autosomal recessive variant in the cardiac ATP-sensitive potassium channel gene (ABCC9 gene).
DCM can lead to sudden death of the affected dog, usually before the age of 2 years, typically by 6 months. In the acute form, the heart is macroscopically normal, and histopathology shows acute multifocal myocardial degeneration and necrosis without inflammation. In the chronic form, clinical signs such as mild cardiomegaly, left ventricular dilatation, left ventricular wall thickening and left atrial enlargement are common. Other histopathological findings include myocardial degeneration, myocardial fibrosis, mild inflammation and sometimes myocardial mineralisation. The disease is inherited as an autosomal recessive trait. Dogs appear healthy prior to sudden death, with reports of anaesthesia or exercise preceding death in some cases.
In Nova Scotia Duck Tolling Retrievers (NSDTR) the disease is caused by another variant that has recently been identified. In this breed DCM is characterized by decreased systolic function and dilation of one or both ventricles, often leading to heart failure or sudden death
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Trait of Inheritance |
In Welsh Springer Spaniel, the trait of inheritance is thought to be: autosomal dominant with variable penetrance. Although inheritance is described as autosomal dominant with variable penetrance, but almost all carriers animals show symptoms.
In Manchester Terrier, the trait of inheritane is autosomal recessive and so the dog must inherit two copies of the variant, one from each parent, to be at risk of developing the disease. In Manchester Terrier, it is also known as Juvenile Dilated Cardiomyopathy (JDCM)
In Nova Scotia Duck Tolling Retrievers (NSDTR) the trait of inheritane is predominantly autosomal recessive and so the dog must inherit two copies of the variant, one from each parent, to be at risk of developing the disease. In this breed, carriers may have low penetrance |
Inheritance : AUTOSOMAL
DOMINANT
trait
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2 ) von Willebrand disease Type I (vWD I)
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Breeds
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Barbet (French Water Dog)
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Bernese Mountain Dog
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Cavapoo
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Cockapoo (English)
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Cockapoo (American)
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Coton de Tulear
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Doberman Pinscher
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Drentsche Patrijschond
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English Toy Terrier
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German Pinscher
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Goldendoodle
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Irish Red and White Setter
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Irish Setter (Red Setter)
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Kerry Blue Terrier
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Kromfohrländer
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Labradoodle
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Manchester Terrier
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Miniature Poodle
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Papillon (Continental Toy Spaniel )
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Pembroke Welsh Corgi
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Poodle
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Stabyhound ( Stabijhoun )
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Standard Poodle
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Toy Poodle
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Doberman Pinscher, Manchester Terrier, Papillon (Continental Toy Spaniel ), and Standard Poodle.
for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published
as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s
microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying
features will not be recorded by the Kennel Club.
In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.
important:
When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.
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The Disease |
We are pleased to announce that Laboklin obtained an exclusive European License to perform this important genetic tes from Vet Gen LCC the owner of the European patentt.
Von Willebrand disease (vWD) is probably the most common inherited bleeding disorder in dogs. It is caused by lack of von Willebrand factor which is a protein that plays a key role in the blood clotting process resulting in prolonged bleeding. The disorder occurs in varying degrees of severity ranging from trivial bleeding to excessive life threatening haemorrhages. |
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Clinical Signs |
Symptoms include spontaneous bleeding from the nose, gum and other mucous membranes. Excessive bleeding occurs after an injury, trauma or a surgery. Often dogs don’t show clinical signs until something starts the bleeding, such as nail trimming, teething, spaying, sterilizing, tail docking, cropping or other causes. Bleeding also occurs internally in the stomach, intestines, urinary tracts, the genitals and / or into the joints.
Type I von Willebrand's disease is considered relatively mild when compared to Type II in Scotch Terriers and Shetland Sheep Dogs and Type III in the German Wirehaired pointer, Type II and Type III are much more severe than type I. |
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Description |
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The Mutation-based Test and its Advantages
A new DNA test has now been developed for the type I vWD.
Genetic testing makes it possible to identify whether a dog is clear, carrier or affected. This is vital to eliminate this condition from the breed within 2-3 generations.
The new DNA test can identify the responsible mutation directly.
This DNA test can be done at any age and unambiguously classifies dogs into affected, carriers and clear. The test enables breeders to eliminate the vWD disease gene from the Poodles. Carriers can be clinically normal because of a low penetrance or expressivity of the disease. This information is essential for controlling this disorder in the breed.
Breeders and owners should view vWD as a significant health risk and strive to get rid of the mutated gene. The discovery of the mutation, and the recent development of a DNA test, now provides just that opportunity.
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Trait of Inheritance |
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vWD Type I is transmitted as autosomal incomplete dominant trait . Dogs with vWD Type 1 may experience mild to moderate bleeding tendencies, however, not all dogs with the mutation will exhibit symptoms
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Inheritance : AUTOSOMAL
Dominant with Incomplete Penetrance
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop von Willebrand disease Type I (vWD I). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / vWDI [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
These dogs may exhibit mild to moderate bleeding tendencies, but not all will show clinical signs.
Affected
Genotype: vWDI / vWDI [ Homozygous mutant ]
The dog carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
Dogs with two copies of the mutation are more likely to show more severe symptoms.
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3 ) Hereditary Xanthinuria Type II (XDH-MOCOS)
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Breeds
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Cavalier King Charles Spaniel
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Dachshund
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English Cocker Spaniel
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English Toy Terrier
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Manchester Terrier
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Miniature Wire haired Dachshund
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Miniature Long Haired Dachshund
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Miniature Smooth Haired Dachshund
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Standard Long Haired Dachshund
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Standard Smooth Haired Dachshund
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Standard Wirehaired Dachshund
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The Disease |
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Hereditary Xanthinuria (XDH-MOCOS)
Hereditary xanthinuria is an autosomal recessive genetic disorder that results in the presence of excessive amounts of xanthine in the urine. Xanthine is a metabolic by-product in the metabolic breakdown of nucleic acids to uric acid. This increases the risk for formation of xanthine bladder or kidney stones and can cause serious kidney disease.
Hereditary xanthinuria is a result of mutations in either xanthine dehydrogenase (XDH, type 1 xanthinuria) or molybdenum cofactor sulfurase (MOCOS, type 2 xanthinuria).
Xanthinuria can also occur from non-genetic factors such as exposure to drugs that inhibit XDH (e.g. allopurinol). This is termed iatrogenic xanthinuria.
So far, four different variants have been identified to cause Hereditary Xanthinuria:
- Type 2a: in Englis Toy Terrier / Manchester Terriers (Type 2a)
- Type 2b: in English Cocker Spaniels, and Cavalier King Charles Spaniels, and
- Type 2c: in Dachshunds (all types
There is also Type 1a variant which is not included in our panel.
Our test includes Xanthinuria Type II only. However, We will only run the varian that is relevant to the breed of the submitted sample. If you are submitting a sample from a breed that is not listed, we recommend running all three tests or specify which variant(s) you would like us to run.
Genetic test in helpful is guiding medical management of affected dogs, identifying dogs at risk even before they form stones, and to inform breeding decisions.
Autosomal recessive |
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Trait of Inheritance |
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Autosomal recessive
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop Hereditary Xanthinuria Type II (XDH-MOCOS). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / XDH-MOCOS [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the dog will develop Hereditary Xanthinuria Type II (XDH-MOCOS) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%. Carriers should only be bred to clear dogs. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: XDH-MOCOS / XDH-MOCOS [ Homozygous mutant ]
The dog carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The dog is likely to develop Hereditary Xanthinuria Type II (XDH-MOCOS) and will pass the mutant gene to its entire offspring
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Price
for the above 3 tests
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£ 126.00 (including VAT)
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