LABOKLIN (UK)| Genetic Diseases | Dogs| Scottish Terrier DNA bundle (CDDY/CDPA + CMO + vWD Type 3)
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Scottish Terrier DNA bundle (CDDY/CDPA + CMO + vWD Type 3)

Test number: 8797

Price: £ 132.00 (including VAT) for all 3 tests

  1 ) Chondrodystrophy (CDDY with IVDD Risk) and Chondrodysplasia (CDPA)

Breeds
All Dog Breeds , American Cocker Spaniel , Basset Hound , Beagle , Bichon Frise , Cavalier King Charles Spaniel , Welsh Corgi (Cardigan) , Chesapeake Bay Retriever , Chihuahua , Coton de Tulear , Dachshund , Dandie Dinmont Terrier , English Springer Spaniel , French Bull Dog , Havanese - Bichon Havanese , Jack Russell Terrier , Miniature Poodle , Miniature Wire haired Dachshund , Miniature Long Haired Dachshund , Miniature Smooth Haired Dachshund , Nova Scotia Duck tolling Retriever ( NSDTR / Toller) , Papillon (Continental Toy Spaniel ) , Pekingese , Pembroke Welsh Corgi , Portuguese Waterdog , Scottish Terrier , Shih Tzu , Toy Poodle , West Highland White Terrier , Welsh Corgi .
Description

Chondrodystrophy (CDDY with IVDD Risk) and Chondrodysplasia (CDPA)

The test checks for two mutations: CDDY with IVDD Risk, and CDPA, and so you will receive two results, one for each mutation.

Chondrodystrophy CDDY (FGF4-12) which causes short legs and the risk of developing Intervertebral Disc Disease (IVDD).

Chondrodysplasia CDPA (FGF4-18), which causes the short legged phenotype in a number of breeds.

Chondrodystrophy (CDDY with IVDD Risk) is a trait that is common to many dog breeds and it is characterised by shorter legs due to shorter long bones. CDDY can also be associated with Intervertebral Disc Disease (IVDD) due to premature degeneration of the intervertbral disc. The intervertebral disc lie between the vertebrae and it is made of a cartilage which separate vertebrae from each other, absorb shocks and allow slight movement of the vertebrae. In affected dogs, premature calcification of part of the disc at early age (from birth to 1 year of age) results in degeneration of all discs in young dogs. These abnormal discs are susceptible to herniation into the spinal canal where the inflammation, and hemorrhage can cause severe pain and neurological dysfunction. CDDY is inherited as a semi-dominant trait which means that dogs with 2 copies of the mutation are smaller than dogs with only 1 copy. As for IVDD, the inheritance follows a dominant mode, meaning that 1 copy of CDDY mutation is sufficient to predispose dogs to IVDD.

The CDDY mutation has been found in breeds such as: Basset Hound, Beagle, Bichon Frise, Cardigan Welsh Corgi, Cavalier King Charles Spaniel, Chesapeake Bay Retriever, Chihuahua, American Cocker Spaniel, Coton de Tulear, Dachshund, Dandie Dinmont Terrier, English Springer Spaniel, French Bulldog, Havanese, Jack Russell Terrier, Nova Scotia Duck Tolling Retriever, Pekingese, Pembroke Welsh Corgi, Poodle (Miniature and Toy), Portuguese Water Dog, Scottish Terrier, Shih Tzu.

The second mutation CDPA explains the short-legged phenotype known as chondrodysplasia (CDPA) in breeds such as Basset Hound, Pembroke Welsh Corgi, Dachshunds, West Highland White Terriers and Scottish Terriers. CDPA inheritance is considered to follow am autosomal dominant mode.

In some breeds both mutations are present and so breeders will be able to plan breeding to reduce occurrence of CDDY, while retaining the short-legged phenotype CDPA.

 
Further reading
FGF4 retrogene on CFA12 is responsible for CDDY and IVDDHTML file
Phenotypic Effects of FGF4 on IVDD (2019)HTML file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-3 weeks

  2 ) Craniomandibular Osteopathy (CMO)

Breeds
Cairn Terrier , Scottish Terrier , West Highland White Terrier .
The Disease
Craniomandibular Osteopathy (CMO) is an inherited bone disease affecting West Highland White Terriers, Cairn Terriers and Scottish Terriers. CMO is also know as Lion Jaw. The disease is characterised by excess bony growth in young dogs. CMO affects the mandibles (jaws), sometimes the temporomandibular joints, occasionally skull bones and more rarely long bones of the legs.

Clinical symptoms typically begin between 4 and 8 months of age and include periodic intense jaw pain, swelling of the jaws, difficulty eating, pain when opening the mouth and drooling. A lump of extra bone on the mandibleand very often noticeable.

The condition generally disappears spontaneously about a year after symptoms are first seen.

 
Further reading
Craniomandibular Osteopathy (CMO)PDF file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks

  3 ) von Willebrand disease Type III (vWD III)

Breeds
Dutch Kooiker (Kooikerhondje ) , Scottish Terrier , Shetland Sheepdog (Sheltie) .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Dutch Kooiker (Kooikerhondje ), and Shetland Sheepdog (Sheltie).

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.

The Disease
The Disease and its major types
Von Willebrand disease (vWD) is the most common inherited bleeding disorder, which is highly heterogeneous ranging from an asymptomatic laboratory abnormality to a life threatening bleeding. The condition is caused by a quantitative or qualitative deficiency of von Willebrand factor (vWF). Von Willebrand's disease vWD usually comes in two major types, type I and type III. Type III is a severe bleeding disorder with a high risk of spontaneous bleeding as well as a risk of serious bleeding from trauma and surgery. It is probably best known in Scotch Terriers. The Shetland Sheep Dogs have also the severe type III vWD.
Description

The protein factor assay
The vWD test available in the past has been an assay of von Willebrand factor protein. It is fairly reliable in detecting affected animals, (those with two copies of the defective gene, and at risk for bleeding), because these animals usually have a very low level of the factor. But this test is very unreliable in differentiating gene carriers from clear animals. (Clear dogs are dogs with two copies of the normal gene). Further, many environmental factors influence the protein factor assay. Thus, a dog that tested in the 'normal' range one year could have a low value in the (carrier) range the next year. As a result breeders have not had much success breeding out this disease, which was frustrating to them.
The mutation-based test and its advantages
The genetic defect leading to the disease has been identified. By DNA testing the responsible mutation can be shown directly. This DNA test can be done at any age and unambiguously classify dogs for the rest of their lives into affected, carrier, and clear animals. With this test the breeder can rapidly eliminate the vWD disease gene from the breed. If a particularly valuable dog turns out to be a carrier, it can be bred to a clear animal, and non-carrier puppies saved for the next round of breeding.
The frequency of carriers was estimated to be that about 11% of Shetland Sheep Dogs are carriers of the type III vWD mutation. This is a significant health burden, and it would be good to get rid of this disease gene by using the DNA test. It should be emphasised that carriers will be clinically normal, and can be used as pets. As said above, if a carrier has excellent breed characteristics, it can be bred to a clear animal, and only clear animals among the progeny be used for further breeding.

Trait of Inheritance
vWD Type III is inherited in an autosomal recessive trait. This means that a dog can be genetically clear (also called homozygous normal), a carrier (also called heterozygous) or affected concerning vWD type III. Especially the carriers can spread the diseased gene in the population. Therefore reliable information of dogs that do not carry disease genes is the key to controlling this disease.

Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

 

Dam

 

Offspring

         
clear
clear
100% clear
         
clear
carrier
50%  clear + 50% carriers
         
clear
affected
100% carriers
         
carrier
clear
50%  clear + 50% carriers
         
carrier
carrier
25% clear + 25% affected + 50% carriers
         
carrier
affected
50% carriers + 50% affected
         
affected
clear
100%  carriers
         
affected
carrier
50% carriers + 50% affected
         
affected
affected
100% affected

 


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 III (vWD III). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / vWD [ 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 von Willebrand disease Type III (vWD III) 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: vWD / vWD [ 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 von Willebrand disease Type III (vWD III) and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks
Price for the above 3 tests
£ 132.00 (including VAT)

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