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LABOKLIN (UK)| Genetic Diseases | Dogs| Pomeranian ( GBM + rcd3-PRA + VDR )
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Pomeranian ( GBM + rcd3-PRA + VDR )

Test number: 8837

Price: £ 126.00 (including VAT) for all 3 tests

  1 ) Gallbladder Mucoceles (GBM)

Breeds
American Cocker Spaniel , Cairn Terrier , Cockapoo (English) , English Cocker Spaniel , Pomeranian , Shetland Sheepdog (Sheltie) .
The Disease
Gallbladder Mucocele is an abnormally distended gallbladder containing a buildup of luminal mucus leading to inflammation (cholecystitis) and possible rupture of the gallbladder. Symptoms include Vomiting, jaundice, loss of appetite, lethargy, polyuria, polydipsia, and diarrhea. The trait of inheritance is autosomal dominant with incomplete penetrance, which means that only one copy of the mutation can put the dog at risk of developing the disease, however, not all dogs with one copy of the mutation have developed the disease.
Trait of Inheritance
Autosomal Dominant With Incomplete Penetrance

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

  2 ) 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

  3 ) Vitamin D-dependent Rickets (HVDRR)

Breed
Pomeranian .
The Disease
Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets).

The disease is also known as Hereditary Vitamin D-Resistant Rickets (HVDRR).

Vitamin D enhances bone mineralization and calcium which are essential for hardening and strengthening the bones.

Affected dogs have defects in the vitamin D receptors in the target tissue which inhibit bone mineralization causing softening, weakening and bending of the bones and skeletal malformations. Clinical signs include limb deformities, joint pain, lameness, limb deformities, spontaneous fractures, jaw deformities, and neurological signs. The disease can also cause alopecia. The causative mutation has been identified in Pomeranians. The condition is inherited as an autosomal recessive trait.

In affected dogs calcium levels are low (Hypocalcemia) which are necessary for the normal formation of bones and teeth. Affected dogs also have low levels of parathyroid hormone (PTH) which leads to secondary hyperparathyroidism.

Treatment: oral administration of active vitamin D and calcium supplements, however, bone deformities are irreversible.

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 Vitamin D-dependent Rickets (HVDRR). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / VDR [ 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 Vitamin D-dependent Rickets (HVDRR) 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: VDR / VDR [ 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 Vitamin D-dependent Rickets (HVDRR) 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
Price for the above 3 tests
£ 126.00 (including VAT)

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