LABOKLIN (UK)| Genetic Diseases | Dogs| Welsh Corgi DNA bundle (CDDY/CDPA(IVDD) +Brachyuria + DM exon2 + rcd3-PRA + vWD1)
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new test:      Paradoxical Pseudomyotonia (PP) in English Cocker and English Springer Spaniels  
new test:      Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel
new test:      Lysosomal Storage Diseases (LSD) in Dalmatian and Doberman  
new Kennel Club DNA testing schemes with LABOKLIN:
   Osteochondrodysplasia (OCD) / Skeletal Dwarfism in Miniature Poodles
  DINGS2: Deafness with Vestibular Dysfunction in Doberman
   Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel


Welsh Corgi DNA bundle (CDDY/CDPA(IVDD) +Brachyuria + DM exon2 + rcd3-PRA + vWD1)

Test number: 8661

Price: £ 138.00 (including VAT) for all 5 tests
update
Chondrodystrophy (CDDY with IVDD Risk) and Chondrodysplasia (CDPA) has been added to this bundle

  1 ) Brachyury (Bobtail Gene / Short Tail / T-Box)

Breeds
Australian Shepherd , Australian Stumpy tail cattle Dog , Austrian Pinscher , Bourbonnais Pointer (Bourbonnais Pointing Dog) , Bouvier des Ardennes , Brazilian Terrier , Brittany ( Brittany Spaniel ) , Croatian Sheepdog , Danish Farm Dog , Jack Russell Terrier , Karelian Bear Dog , Miniature American Shepherd , Mudi , Polish Lowland sheepdog , Pyrenean Shepherd , Savoy Sheepdog , Schipperke , Spanish Water Dog , Spanish Waterdog , Swedish Farm Dog , Swedish Vallhund , Welsh Corgi .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Schipperke.

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.

Description

Bobtail gene: Brachyury / Anury (Bobtail Gene / Short Tail / T-Box)

The spine (or backbone) is made up of a series of small bones called vertebrae. The dog's tail is the last segment of the spine and it is made up of as many as 23 small vertebrae. Normal tail length and number of vertebrae varies considerably in dogs, however, the number within a breed will be the same or may vary by one or two.

Tail length depends on the number of the caudal vertebrae, which can vary significantly between individuals. The bones of the normal tail are bigger at the base and and gradually taper toward the tip, giving the impression of a point.

A natural bobtail is a dog's tail which grows unusually short or is missing completely due to a genetic mutation. A short tail with variable lengths is also referred to as Brachyury , and a complete lack of vertebrae is referred to as Anury In a bobtail, some of the vertebrae are missing; the end of the tail looks somewhat blunt.

The mutation that is responsible for the bobtail phenotype has been identified in many breeds (but not all bobtail breeds), the mutation is in the t-box gene, and a DNA test is available at Laboklin.

The trait of inheritance is autosomal dominant which means that when a dog inherits one copy of the mutation (heterozygous N/T) it will have a natural short tail. Dogs with two copies (homozygous T/T) of the T-Box gene die in womb and reabsorbed resulting in smaller litter size. If puppies are born with two copies of the T-Box, they will have severe anatomical defects including Spina Bifida, which are severe enough to require euthanasia.

The test also helps in identifying if a dog is docked or if it has a natural short tail.

Possible results:

  • N/N (Normal Homozygous for the normal allele): The dog has two copies of the normal gene and will have a normal tail.
  • N/T:(Heterozygous) The dog carries one copy of the normal gene and one copy of the mutant gene; the dog has a natural short tail. Heterozygous dogs can pass the mutation to their offspring with a probability of 50%.
  • T/T (Homozygous for the mutation) (T/T): does not exist and thought to be lethal.

Research found that there is no association between the bobtail mutation and the short tail phenotype in the following breeds:

  • Boston Terrier
  • English Bulldog
  • King Charles Spaniel
  • Miniature Schnauzer
  • Parson Russell Terrier
  • Rottweiler

 
Further reading
Ancestral T-Box Mutationhtml file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks

  2 ) Degenerative Myelopathy / Degenerative Radiculomyelopathy) DM (Exon 2) / SOD1

Breeds
Airedale Terrier , Alaskan Malamute , All Dog Breeds , American Eskimo , Bernese Mountain Dog , Bloodhound , Borzoi (Russian Wolfhound) , Boxer , Cavalier King Charles Spaniel , Canaan Dog , Welsh Corgi (Cardigan) , Chesapeake Bay Retriever , Cockapoo (English) , Cockapoo (American) , Fox Terrier , French Bull Dog , German Shepherd , Glen Of Imaal Terrier ( GIT ) , Golden Retriever , Goldendoodle , Pyrenean Mountain Dog (Great Pyrenees) , Hovawart , Pumi ( Hungarian Pumi / Pumik ) , Jack Russell Terrier , Kerry Blue Terrier , Labradoodle , Labrador Retriever , Lakeland Terrier , Northern Inuit (Tamaskan / British Timber Dog) , Nova Scotia Duck tolling Retriever ( NSDTR / Toller) , Pembroke Welsh Corgi , Poodle , Pug , Rhodesian Ridgeback , Rough Collie , Soft Coated Wheaten Terrier , Shetland Sheepdog (Sheltie) , Smooth Collie , Utonagan , Wire Fox Terrier .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Chesapeake Bay Retriever, French Bull Dog, German Shepherd, Nova Scotia Duck tolling Retriever ( NSDTR / Toller), Rough Collie, and Smooth Collie.

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
Canine degenerative myelopathy (also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. The disease has an insidious onset typically between 7 and 14 years of age. It begins with a loss of coordination (ataxia) in the hind limbs. As of July 15, 2008 the mutated gene responsible for DM has been found present in 43 breeds including German Shepherds, Boxers, Chesapeake Bay Retrievers, Rhodesian Ridgebacks, and both breeds of Welsh Corgis. The disease is chronic and progressive, and resulting in paralysis.
Clinical Signs
Degenerative myelopathy initially affects the back legs and causes muscle weakness and loss, and lack of coordination. These cause a staggering effect that may appear to be arthritis. The dog may drag one or both rear paws when it walks. This dragging can cause the nails of one foot to be worn down. The condition may lead to extensive paralysis of the back legs. As the disease progresses, the animal may display symptoms such as incontinence and has considerable difficulties with both balance and walking. If allowed to progress, the animal will show front limb involvement and extensive muscle atrophy. Eventually cranial nerve or respiratory muscle involvement necessitates euthanasia. Progression of the disease is generally slow but highly variable. The animal could be crippled within a few months, or may survive up to three years
Trait of Inheritance
Tow alleles are invloved in Degenerative Myelopathy, A and G, therefore a test result can be A/A, A/G, or G/G.

Mode of inheritance is autosomal recessive with variable penetrance;

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 show signs of the Degenerative Myelopathy

 

Carrier

Genotype: N / DM (Exon 2) [ 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 show signs of the Degenerative Myelopathy

 

Affected

Genotype: DM (Exon 2) / DM (Exon 2) [ 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 may or may not show signs of the disease
Description

SOD1-Gene

Please note that Exon 2 can be found in all dog breeds, there is another DM mutation in Exon 1 which can only be found in Bernese Mountain Dog, click here for more information.

For bernese Mountain Dog we have a special offer for both Exon 1 and Exon 2 at reduced price, click here for more details.

Sample Requirements
Buccal Swabs or 0.5 - 1 ml blood in EDTA Blood Tube
Turnaround
2-3 weeks

  3 ) Progressive Retinal Atrophy (rcd3 PRA)

Breeds
Welsh Corgi (Cardigan) , Chinese Crested , Pomeranian .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Welsh Corgi (Cardigan).

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
Progressive retinal atrophy (PRA) is a leading hereditary cause of blindness in pedigree dogs as is its counterpart retinitis pigmentosa (RP) in humans. PRA shows genetic heterogeneity, as does RP, with several distinct forms already recognized and several more remaining to be investigated. Pups show signs of night-blindness by 6 weeks of age. By the age of 1-2 years most affected dogs are completely blind.
Trait of Inheritance
rcd3 PRA follows an autosomal recessive trait of inheritance. Since vision loss might be recognised first when the dog is several years old, it is important to determine the actual status of the dog before breeding it.

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 Progressive Retinal Atrophy (rcd3 PRA). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / PRA [ 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 Progressive Retinal Atrophy (rcd3 PRA) 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: PRA / PRA [ 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 Progressive Retinal Atrophy (rcd3 PRA) and will pass the mutant gene to its entire offspring
Description

Progress in molecular genetics has allowed the identification of the gene mutation responsible for PRA. By DNA testing, the responsible mutation can be shown directly. This method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish between affected and clear dogs. This is an essential information for controlling the disease in the breed.

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks

  4 ) 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

  5 ) 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
Price for the above 5 tests
£ 138.00 (including VAT)

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