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LABOKLIN (UK)| Genetic Diseases | Dogs| English Springer Spaniel DNA bundle <BR> (AMS + FN + SPS + Fucosidosis + PFKD + cord1-PRA )
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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


English Springer Spaniel DNA bundle
(AMS + FN + SPS + Fucosidosis + PFKD + cord1-PRA )

Test number: 8660 (this test number replaces the old 8706)

Price: £ 138.00 (including VAT) for all 6 tests
Special Offer
You can add DAMS DNA test to the bundle at just £24.00 including VAT (DAMS Standard price is £48 when ordered individually).

Please note that this offer cannot be used in conjunction with other offers.


  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 ) Familial Nephropathy (FN) / Hereditary Nephropathy

Breed
English Springer Spaniel .
The Disease
The Familial or Hereditary Nephropathy (FN) is a juvenile-onset fatal kidney disease in English Springer Spaniels. The renal disease caused by FN invariably is progressive and ultimately fatal. Dogs with FN typically develop chronic renal failure between 6 month and 2 years of age, with eventual and sometimes rapid destruction of both kidneys. The first clinical signs are excessive water consumption, growth rate or loss in weight, reduced appetite, and vomiting.
Trait of Inheritance
FN in English Springer Spaniel is caused by a type IV collagen defect, which can be detected by a mutation-based gene test. FN 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 FN. 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/FN); while it will not be affected by FN, it can pass the mutation onto its offspring and should therefore only be mated to clear dogs. Dogs that develop FN have two gene copies with the mutation (genotype FN/FN 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 Familial Nephropathy (FN) / Hereditary Nephropathy. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / FN [ 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 Familial Nephropathy (FN) / Hereditary Nephropathy 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: FN / FN [ 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 Familial Nephropathy (FN) / Hereditary Nephropathy and will pass the mutant gene to its entire offspring
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.

* test will be performed by a partner lab The DNA test does not provide informations about onset of clinical signs and the severity of disease symptoms.

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

  3 ) Hypomyelination (Shaking Puppy Syndrome) SPS

Breeds
English Springer Spaniel , Weimaraner .
The Disease
The disease is caused by disruption of myelination in the spinal cord. Affected dogs show a generalized tremor at age of 12 to 14 days. The severity of thremor can vary between litter mates. The dogs can ambulate, but show a “hopping” gait in the hind limbs. The tremor is not present when the dogs are at rest or asleep and diminishes over time by 3 to 4 months of age.
Trait of Inheritance
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 Hypomyelination (Shaking Puppy Syndrome) SPS. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / SPS [ 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 Hypomyelination (Shaking Puppy Syndrome) SPS 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: SPS / SPS [ 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 Hypomyelination (Shaking Puppy Syndrome) SPS and will pass the mutant gene to its entire offspring
Sample Requirements
Buccal Swabs or 0.5 - 1 ml blood in EDTA Blood Tube
Turnaround
2 - 3 weeks

  4 ) Fucosidosis

Breed
English Springer Spaniel .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in 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
Fucosidosis is a lysosomal storage disorder caused by deficiency of the enzyme a-L-fucosidase. In an healthy animal, this enzyme cleaves complex proteins and lipids so that they can be metabolised. A diseased animal lacks this enzyme whereby the complex proteins and lipids are stored in diverse organs; for example in lymph nodes, pancreas, liver, kidneys, lungs and bone marrow and especially in cerebral and neural tissue. The disease in the Springer Spaniel manifests as a mainly neurological syndrome with mixed motor and mental function deficits. Affected animals show a disturbed coordination of movements, behavioural abnormalities, blindness, deafness and problems in deglutition. The disease occurs between the age of 18 months and 4 years with a progressive course and finally lethal outgoing.
Trait of Inheritance
Fucosidosis is inherited in an autosomal recessive trait. This means that an English Springer Spaniel can be genetically clear (also called homozygous normal), a carrier (also called heterozygous) or affected concerning the Fucosidosis. 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 Fucosidosis. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / Fucosidosis [ 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 Fucosidosis 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: Fucosidosis / Fucosidosis [ 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 Fucosidosis and will pass the mutant gene to its entire offspring
Description

This is a mutation-based gene test, which offers many advantages over other methods

The genetic defects leading to Fucosidosis and Phosphofructokinase Deficiency in the English Springer Spaniels have been identified. By DNA testing the responsible mutation can be shown directly. This method provides a very high test accuracy and can be done at any age. It offers the possibility to distinguish not only between affected and normal / unaffected 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. 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.

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

  5 ) PFK Deficiency (Phosphofructokinase deficiency / PFKD)

Breeds
American Cocker Spaniel , Cockapoo (American) , English Springer Spaniel , German Spaniel (Wachtelhund) , Whippet .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in 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
Muscle type phosphofructokinase deficiency is an inherited glycogen storage disease. It is caused by a nonsense mutation, which leads to a lack of phosphofructokinase subunits or activity. Without the PFK enzyme muscle cells and erythrocytes are not able to produce enough adequate energy for their needs. Therefore affected dogs display the following intermittent, clinical signs: weakness, lethargy, exercise intolerance, poor performance, muscle cramps, anaemia, jaundice and dark-coloured urine. Dark-coloured urine, a hallmark of this disorder, usually appears after strenuous exercise or after excessive barking, panting or heat exposure and is caused by the destruction of the erythrocytes.
Trait of Inheritance
Phosphofructokinase Deficiency is inherited in an autosomal recessive trait. This means that an English Springer Spaniel can be genetically clear (also called homozygous normal), a carrier (also called heterozygous) or affected concerning the Fucosidosis and Phosphofructokinase Deficiency respectively. 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 PFK Deficiency (Phosphofructokinase deficiency / PFKD). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / PFK [ 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 PFK Deficiency (Phosphofructokinase deficiency / PFKD) 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: PFK / PFK [ 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 PFK Deficiency (Phosphofructokinase deficiency / PFKD) and will pass the mutant gene to its entire offspring
Description

This is a mutation-based gene test, which offers many advantages over other methods

The genetic defects leading to Phosphofructokinase Deficiency in the English Springer Spaniels has been identified. By DNA testing the responsible mutation can be shown directly. This method provides a very high test accuracy and can be done at any age. It offers the possibility to distinguish not only between affected and normal / unaffected 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. 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.

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

  6 ) 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.

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
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.

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2 - 3 weeks
Price for the above 6 tests
£ 138.00 (including VAT)

To order:




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