LABOKLIN (UK)| Genetic Diseases | Dogs| Startle Disease (SD) / Hyperekplexia
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Startle Disease (SD) / Hyperekplexia

Test number: 8191 (this test number replaces the old 8191DD)
Gene: SD
Price: £ 66.00 (including VAT)
Breeds
Irish Wolfhound , Spanish Greyhound (Galgo) .
The Disease
Startle Disease or Hyperekplexia is an inherited neurodegenerative disease. First symptoms appear 5-7 days after birth. Affected dogs show extensor rigidity and tremor evoked by handling. Symptoms cease when dogs are relaxed or sleeping. The puppies are unable to stand and show rigid extended posture in all four limbs. Additionally, cyanosis appear while suckling. Affected puppies have to be euthanised.
Trait of Inheritance
The mutation responsible for this disease is identified via PCR testing. This test has very high accuracy and can be performed at any age of the dog. The method is suitable to distinguish between homozygous affected dogs (SD/SD), heterozygous carrier dogs (N/SD) and non-carrier dogs (homozygous clear N/N). This test provides essential information for the dog breeder enabling him to make responsible decisions concerning the breeding of dogs in order to limit the spread of this debilitating 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 Startle Disease (SD) / Hyperekplexia. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / SD [ Heterozygous ]

The dog carries one copy of the mutant gene and one copy of the normal gene.

The dog carries one copy of the mutated form of the gene. Because of the recessive mode of inheritance, it is unlikely that the dog will suffer from Startle Disease, however there is a 50% chance that the dog will pass on the mutation to its offspring.

 

Affected

Genotype: SD / SD [ Homozygous mutant ]

 

The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

Homozygous affected dogs have a high risk to suffer from Startle Disease. The dog will pass on the mutation to a 100% of her offspring.
Description

The mutation responsible for Startle Disease can now be identified using our DNA-test. The test can be performed on dogs of any age and even puppies can be tested. The DNA test does not only differentiate between clear and affected dogs, but furthermore identifies healthy carrier dogs. This is of crucial importance for dog breeders. To achieve a maximum reliability of the test result, we perform the DNA-test of each submitted sample in two independent test runs.

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

We will run this test 2 independant times on your sample to ensure that the result is 100% accurate

Price
£ 66.00 (including VAT)

To order:




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