LABOKLIN (UK)| Genetic Diseases | Dogs| Pompe's Disease (Glycogen Storage Disease type II / GSDII)
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Pompe's Disease (Glycogen Storage Disease type II / GSDII)

Test number: 8513 (this test number replaces the old 8246D)
Gene: GSDII
Price: £ 48.00 (including VAT)
Breeds
Finnish Lapphund , Lapponian Herder , Swedish Lapp Hund .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Finnish Lapphund.

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
Pompe's disease or GSDII (Glycogen Storage Disease Type II) is caused by deficiency of the acid alpha-glucosidase enzyme which leads to accumulation of glycogen in the cells, and this results in abnormal glucose levels in tissues such as cardiac, skeletal, and smooth muscle.
Clinical Signs
Affected dogs suffer from vomiting, regurgitation, progressive muscle weakness, exercise intolerance and heart problems. Symptoms start at around seven month of age, affected dogs usually die around 1.5-2 years of age.
Trait of Inheritance
Autosomal recessive

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 Pompe's Disease (Glycogen Storage Disease type II / GSDII). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / GSDII [ 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 Pompe's Disease (Glycogen Storage Disease type II / GSDII) 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: GSDII / GSDII [ 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 Pompe's Disease (Glycogen Storage Disease type II / GSDII) 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
£ 48.00 (including VAT)

To order:




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