LABOKLIN (UK)| Genetic Diseases | Dogs| Neuronal Ceroid Lipofuscinosis Combi ( NCL Combi )
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Neuronal Ceroid Lipofuscinosis Combi ( NCL Combi )

Test number: 8133
Gene: NCL
Price: £ 66.00 (including VAT)
Note
This test detects 2 mutations depending on the selected breed:
  • In Australian Shepherd and Miniature American Shepherd:
    2 breed specific variants are detected (standard and adult onset)
  • In Australian Cattle Dog : 2 breed specific variants are detected (standard and adult onset)
  • In Dachshunds : 2 breed specific variants are detected (standard and adult onset)

Please note that other breeds are known to be affected by other NCL variants, you can check NCL in other breeds

Breeds
Australian Cattle Dog , Australian Shepherd , Dachshund , Miniature Wire haired Dachshund , Miniature American Shepherd , Miniature Long Haired Dachshund , Miniature Smooth Haired Dachshund , Standard Long Haired Dachshund , Standard Smooth Haired Dachshund , Standard Wirehaired Dachshund .
The Disease
The clinical course includes increasing levels of agitation and possible outbursts of aggression, hallucinations, hyperactivity and epileptic fits. Most animals lose their ability to coordinate everyday muscular activities. As the extent of neurodegeneration increases, all affected dogs develop psychological abnormalities and ataxia.
Trait of Inheritance
Ceroid lipofuscinosis in Border Collies and American Bulldogs 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 Neuronal Ceroid Lipofuscinosis Combi ( NCL Combi ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / NCL [ 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 Neuronal Ceroid Lipofuscinosis Combi ( NCL Combi ) 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: NCL / NCL [ 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 Neuronal Ceroid Lipofuscinosis Combi ( NCL Combi ) and will pass the mutant gene to its entire offspring
Description

The mutation-based gene test and its advantages The genetic defect leading to the disease has been identified. 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 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.

* Please note that NCL in American Staffordhsire Terrier is run by a partner lab

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks
Price
£ 66.00 (including VAT)

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