LABOKLIN (UK)| Genetic Diseases | Dogs| German Shorthaired Pointer (GSP) DNA bundle (AMS + ECLE + JEB + VWD2)
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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


German Shorthaired Pointer (GSP) DNA bundle (AMS + ECLE + JEB + VWD2)

Test number: 8782

Price: £ 138.00 (including VAT) for all 4 tests

  1 ) Acral Mutilation Syndrome ( AMS )

Breeds
Cockapoo (English) , English Cocker Spaniel , English Pointer , English Springer Spaniel , French Spaniel , German Shorthair Pointer , Sprocker Spaniel .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in English Cocker Spaniel, and English Springer Spaniel.

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
Acral Mutilation Syndrome (AMS) is an inherited sensory neuropathy disorder affecting several sporting breeds. The disease is characterised by insensitivity to pain in the feet ( acral analgesia ) which can be associated with sudden and intense licking, biting and severe self-mutilation of the feet, while proprioception, motor abilities and spinal reflexes remain intact.

Affected puppies look smaller than their healthy littermates.

Symptoms maybe followed by further complications such as infections, ulceration, nail loss, swollen paws and fractures.

Age of onset: 3-12 months

Trait of Inheritance
Recessive trait of inheritance, which means that a dog must inherit two copies of the mutation (one from each parent) to become genetically affected.

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 Acral Mutilation Syndrome ( AMS ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / AMS [ 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 Acral Mutilation Syndrome ( AMS ) 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: AMS / AMS [ 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 Acral Mutilation Syndrome ( AMS ) 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

  2 ) Exfoliative Cutaneous Lupus Rrythematosus ( ECLE ) / Lupoid Dermatosis

Breeds
German Shorthair Pointer , Hungarian Vizsla (Magyar Vizsla / Smooth haired) , Hungarian Wirehaired Vizsla (Vizslak) .
The Disease
Exfoliative Cutaneous Lupus Erythematosus (ECLE), which is also known as Lupoid Dermatosis is an inherited monogenic (controlled by one gene) disease that has been observed in the German Shorthaired Pointer and Hungarian Vizsla breeds. Symptoms start in the first year of age and include skin lesions, lameness, scaling, erythema (reddening of the skin), erosions/ulcers, scarring, disfiguration, decreased quality of life, progresses to joint pain, oligospermia (low sperm count) in males which progressed to azoospermia (absence of sperm), irregular heat cycles in females. Dogs with this disease have dramatically shortened life expectancies and are generally humanely euthanized upon diagnosis.

The mode of inheritance is autosomal recessive, which means that the disease occur when the puppy inherits two copies of the mutation, one from each parent.

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

  3 ) JEB (Junctional Epidermolysis bullosa)

Breed
German Shorthair Pointer .
The Disease
EB (Junctional Epidermolysis bullosa) is a blistering disorder of the skin and mucous membranes in which tissue separation occurs within the lamina lucida of the basement membrane zone at the dermal-epidermal junction. Affected dogs show erosion and encrustation in the field of the balls, knees, elbows, ankle joints, carpal bones, hips, lips and tongue.
Description

The genetic test detects a SNP mutation that is inherited together with the responsible mutation. 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. The DNA test does not provide informations about onset of clinical signs and the severity of disease symptoms.

Trait of Inheritance
JEB in German Pointers 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 JEB (Junctional Epidermolysis bullosa). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / JEB [ 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 JEB (Junctional Epidermolysis bullosa) 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: JEB / JEB [ 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 JEB (Junctional Epidermolysis bullosa) 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 ) von Willebrand disease Type II (vWD II)

Breeds
German Shorthair Pointer , German Wirehaired Pointer .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in German Wirehaired Pointer.

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
von-Willebrand disease is an 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 Type II affects The German wirehaired pointer and cause severe bleeding disorder.
Trait of Inheritance
Type II vWD is very uncommon. It is an autosomal recessive 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 von Willebrand disease Type II (vWD II). 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 II (vWD II) 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 II (vWD II) 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
£ 138.00 (including VAT)

To order:




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