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LABOKLIN (UK)| Genetic Diseases | Dogs| Coton de Tulear DNA bundle (vWD1 + CDPA/CDDY + CMR + PH)
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new test:      Paradoxical Pseudomyotonia (PP) in English Cocker and English Springer Spaniels  
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Coton de Tulear DNA bundle (vWD1 + CDPA/CDDY + CMR + PH)

Test number: 8770

Price: £ 126.00 (including VAT) for all 4 tests

  1 ) von Willebrand disease Type I (vWD I)

Breeds
Barbet (French Water Dog) , Bernese Mountain Dog , Cavapoo , Cockapoo (English) , Cockapoo (American) , Coton de Tulear , Doberman Pinscher , Drentsche Patrijschond , English Toy Terrier , German Pinscher , Goldendoodle , Irish Red and White Setter , Irish Setter (Red Setter) , Kerry Blue Terrier , Kromfohrländer , Labradoodle , Manchester Terrier , Miniature Poodle , Papillon (Continental Toy Spaniel ) , Pembroke Welsh Corgi , Poodle , Stabyhound ( Stabijhoun ) , Standard Poodle , Toy Poodle .
Kennel Club
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.

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.

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.

Trait of Inheritance
vWD Type I is transmitted as autosomal incomplete dominant trait . This means that a dog that is genetically clear (also called homozygous normal) will not develop the vWD disorder and will not pass it to its offspring. Carrier dogs which carries one copy of the abnormal gene and another normal copy (also known as heterozygous) will have bleeding tendency. These carrier dogs will pass the abnormal gene to their offspring with a probability of 50%, the trait is called incomplete dominance because carrier dogs may not develop the disorder at all but they will still pass the abnormal gene to their offspring. Because it is very uncommon for carriers to show symptoms of vWD this condition is treated as Recessive. Affected dogs (carry two copies of the abnormal gene) will develop the vWD disorder and will pass the abnormal gene to each of their offspring

Inheritance : trait
Description

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.

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1 - 2 weeks

  2 ) Primary Hyperoxaluria type I (PH I)

Breed
Coton de Tulear .
The Disease
Primary Hyperoxaluria ( PH ) is an inherited disease affecting the Coton de Tulear breed and characterised by build up of excess calcium oxalate in a number of tissues, in particular in the the kidney where where calcium oxalate stones form leading to progressive kidney failure. The crystals also accumulate in other tissues including bones, joints, cartilages, retina and muscles. Symptoms include intense abdominal pain radiating to the groin, blood can be seen in the urine, and the passage of kidney stones.
Trait of Inheritance
.

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 Primary Hyperoxaluria type I (PH I). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / AGXT [ 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 Primary Hyperoxaluria type I (PH I) 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: AGXT / AGXT [ 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 Primary Hyperoxaluria type I (PH I) and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.

  3 ) 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

  4 ) Canine Multi-Focal Retinopathy (CMR 1/2/3)

Breeds
American Bulldog , Australian Shepherd , Boerboel (South African mastiff) , Bull Mastiff , Bulldog (English) , Cane Corso (Italian) , Coton de Tulear , Dogue de Bordeaux (French Mastiff) , English Mastiff , Finnish Lapphund , French Bull Dog , Pyrenean Mountain Dog (Great Pyrenees) , Lapponian Herder , Mastiff , Miniature American Shepherd , Perro de Presa Canario , Swedish Lapp Hund .
The Disease
Canine Multi-focal Retinopathy (CMR) is a recently identified recessively inherited eye disease observed in a number of dog breeds which is characterised by the presence of numerous distinct (i.e. multi-focal), roughly circular patches of elevated retina with accumulation of material that produces gray-tan-pink colored lesions. These lesions, looking somewhat like blisters, vary in location and size, although typically they are present in both eyes of the affected dog.Discrete areas of tapetal hyper-reflectivity might also be seen.

The disease generally develops in young dogs before 4 months and might progress slowly, might appear to heal, or might even appear and then go away again. Some dogs affected with CMR do not show clinical symptoms of disease until later in life. Some lesions disappear with no remaining sign, while some lesions leave a wrinkled area. Some leave the lasting lesion of a blister formation. Most dogs exhibit no noticeable problem with vision despite their abnormal appearing retinas. And in almost all cases, CMR does not progress significantly over time. The disease seems to have a consistent pattern among the breeds identified so far, although lesions in the Coton de Tulear are often more serious and seem to remain longer than in some of the other CMR-affected breeds. In rare severe cases, the clinical diagnosis could be confused with progressive retinal atrophy (PRA).

Please note that Lapponian Herder can be affected two other forms of PRA, the IFT122-PRA and the prcd PRA

Trait of Inheritance
autosomal recessive mode

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 Canine Multi-Focal Retinopathy (CMR 1/2/3). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CRM [ 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 Canine Multi-Focal Retinopathy (CMR 1/2/3) 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: CRM / CRM [ 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 Canine Multi-Focal Retinopathy (CMR 1/2/3) 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
1 - 2 weeks
Price for the above 4 tests
£ 126.00 (including VAT)

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