LABOKLIN (UK)| Genetic Diseases | Dogs| Dachshund DNA bundle (Osteogenesis imperfecta + NCL + cord1-PRA + crd-PRA)
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new test:      Paradoxical Pseudomyotonia (PP) in English Cocker and English Springer Spaniels  
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new Kennel Club DNA testing schemes with LABOKLIN:
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  DINGS2: Deafness with Vestibular Dysfunction in Doberman
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Dachshund DNA bundle (Osteogenesis imperfecta + NCL + cord1-PRA + crd-PRA)

Test number: 8659

Price: £ 126.00 (including VAT) for all 4 tests
bundle update
Please note that Chondrodystrophy (CDDY with IVDD Risk) and Chondrodysplasia (CDPA) has been removed from the bundle because all tested Dachshunds come back homozygous for both mutations. Bundle price reduced accrdingly , however, we have a new bundle which includes the CDDY with IVDD/CDPA

  1 ) Brittle Bone Disease (Osteogenesis Imperfecta)

Breeds
Beagle , Golden Retriever , Miniature Wire haired Dachshund , Miniature Smooth Haired Dachshund , Standard Smooth Haired Dachshund , Standard Wirehaired Dachshund .
The Disease
Osteogenesis Imperfecta is a generalized, inherited bone defect characterized by extreme fragility of bones and loose joints. The bones can break easily, sometimes they break for no known reason. The long bones are slender and have thin cortices. Calluses and recent fractures may be present. The disease can also cause weak muscles, brittle teeth, curved spine and hearing loss. The cause of the disease is a gene defect that affects how the body makes collagen, a protein that helps make bones strong
Clinical Signs
Clinical signs include pain, spontaneous bone and teeth fractures, loose joints, and reduced bone density on radiography. Primary teeth are extremely thin-walled and brittle Osteogenesis imperfecta can range from mild to severe and symptoms vary from one dog to another.
Trait of Inheritance
In Dachshunds, Osteogenesis imperfecta Is inherited as a autosomal recessive trait, however, in Beagle and Golden Retriever it is inherited as autosomal dominant trait.

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 Brittle Bone Disease (Osteogenesis Imperfecta). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / OI [ 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 Brittle Bone Disease (Osteogenesis Imperfecta) 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: OI / OI [ 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 Brittle Bone Disease (Osteogenesis Imperfecta) and will pass the mutant gene to its entire offspring
 
Further reading
Osteogenesis Imperfecta in DachshundHTML file
Canine COL1A2 mutationHTML file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks

  2 ) Neuronal Ceroid Lipofuscinosis ( CL / NCL )

Breeds
American Bulldog , Border Collie , Cane Corso (Italian) , Chihuahua , Chinese Crested , English Setter , Golden Retriever , Goldendoodle , Gordon Setter , Saluki , Tibetan Terrier .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Border Collie, English Setter, Saluki, and Tibetan Terrier.

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 clinical course includes increasing levels of agitation and possible outbursts of aggression, hallucinations, hyperactivity and epileptic fits. Most animals lose their ability to coordinate everyday muscular activities. As the extent of neurodegeneration increases, all affected dogs develop psychological abnormalities and ataxia.
Description

The mutation-based gene 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 method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish not only between affected and clear dogs, but also to identify clinically healthy carriers. This is an essential information for controlling the disease in the breed, as carriers are able to spread the disease in the population, but can not be identified by means of common laboratory diagnostic.

* Please note 2 different variants can be detected in each of the following breeds: Australian Shepherd and Miniature American Shepherd, Australian Cattle Dog, and Dachshunds, and therefore we have a separate listing combining the two relevant tests for each breed at a discounted price: please check here. We also offer

NCL in American Staffordshire Terrier. which is run by a partner lab

Trait of Inheritance
Ceroid lipofuscinosis in Border Collies and American Bulldogs is an inherited autosomal recessive trait. This means that a dog can be clear (homozygous normal), affected, or a carrier (heterozygous). The carriers can spread the diseased gene in the population. Therefore, reliable information on non-affected dogs 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 Neuronal Ceroid Lipofuscinosis ( CL / NCL ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / NCL [ 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 Neuronal Ceroid Lipofuscinosis ( CL / NCL ) 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: NCL / NCL [ 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 Neuronal Ceroid Lipofuscinosis ( CL / NCL ) 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

  3 ) Progressive Retinal Atrophy (cord1- PRA / crd4 PRA)

Breeds
Beagle , Bolonka Zwetna (Tsvetnaya Bolonki) , Clumber Spaniel , Curly Coated Retriever , Dachshund , English Cocker Spaniel , English Springer Spaniel , French Bull Dog , Miniature Wire haired Dachshund , Miniature Long Haired Dachshund , Miniature Smooth Haired Dachshund .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in English Springer Spaniel, Miniature Wire haired Dachshund, Miniature Long Haired Dachshund, and Miniature Smooth Haired Dachshund.

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 cord1-PRA (Cone-rod dystrophy 1) is an inherited disease of the eye that occurs in English Springer Spaniel, Miniature Long-Haired Dachshunds and Smooth-Haired Dachshunds.

The retina is a thin layer of neural cells that lines the back of the eyeball. The vertebrate retina contains photoreceptor cells (rods and cones) that respond to light. The cones mediate high-resolution vision and colour vision. The rods mediate lower-resolution, black-and-white, night vision.

The degeneration of the retina results in loss of vision, often leading to blindness. There is currently no treatment for the disease. In contrast to rod-cone dystrophies, where firstly, rod cells are affected and secondly, degeneration of the cone cells results in complete blindness of the dog, cone-rod dystrophies are characterised by the relatively early loss of cone photoreceptors.

The earliest ophtalmoscopic signs could appear about six month of age but some dogs with the mutation are not diagnosed until much later in life, so owner may never see behavioural changes and never recognise that the dog can pass the mutation onto its offspring.

Since diagnosis of retinal diseases in dogs may prove difficult, the genetic test on cord1-PRA helps to diagnose a specific form of a disease and is also a useful tool for breeders to eliminate the mutated gene from the dog population.

Description

By DNA testing, the responsible mutation can be shown directly. This method provides a test with a very high accuracy and can be done at any age. It offers the possibility to distinguish not only between affected and clear dogs, but also to identify clinically healthy carriers. This is an essential information for controlling the disease in the breed, as carriers are able to spread the disease in the population, but can not be identified by means of common laboratory diagnostic.

Trait of Inheritance
Cord1-PRA is inherited as an autosomal recessive trait. So there are three conditions a dog can be: it can be clear (genotype N/N or homozygous normal) meaning that it does not carry the mutation and will not develop the cord1-form of PRA. Since it also cannot pass the mutation onto its offspring, it can be mated to any other dog.

A dog which has one copy of the gene with the mutation and one copy without the mutation is called a carrier or heterozygous (genotype N/PRA); while it will not be affected by cord1-PRA, it can pass the mutation onto its offspring and should therefore only be mated to clear dogs.

Dogs that develop this form of PRA have two gene copies with the mutation (genotype PRA/PRA or homozygous affected); they will always pass the mutated gene onto their offspring and should also be mated only to clear dogs.


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 (cord1- PRA / crd4 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 (cord1- PRA / crd4 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 (cord1- PRA / crd4 PRA) 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

  4 ) Progressive Retinal Atrophy (crd PRA)

Breeds
Miniature Wire haired Dachshund , Standard Wirehaired Dachshund .
The Disease
The crd-PRA (Cone-rod dystrophy) is an autosomal recessive inherited photoreceptor disease caused by the predominant loss of cone function that occurs in Standard Wirehaired Dachshunds. In contrast to rod-cone dystrophies, where firstly, rod cells are affected and secondly, degeneration of the cone cells results in complete blindness of the dog, cone-rod dystrophies are characterized by the relatively early loss of cone photoreceptors while the rod function remains relative preserved. The end stage of the disease results usually in day blindness. The earliest ophtalmoscopic signs appear about six month of age
Description

The genetic defect leading to the disease has been identified. 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 not only between affected and clear dogs, but also to identify clinically healthy carriers. This is an essential information for controlling the disease in the breed, as carriers are able to spread the disease in the population, but can not be identified by means of common laboratory diagnostic.

Trait of Inheritance
crd PRA follows an autosomal recessive mode 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 Progressive Retinal Atrophy (crd 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 (crd 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 (crd PRA) and will pass the mutant gene to its entire offspring
Sample Requirements
0.5 to 1 ml blood in EDTA tube or Buccal Swabs
Turnaround
2-3 weeks
Price for the above 4 tests
£ 126.00 (including VAT)

To order:




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