Neuronal Ceroid Lipofuscinosis NCL2 | Animal Genetics

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Early onset Neuronal Ceroid Lipofuscinosis in Dachshunds (NCL2)

Description:

There are many forms of Neuronal Ceroid Lipofuscinosis (NCL2) result in progressive degeneration of the central nervous system. Characteristic neurological signs of NCL2 include mental dullness, Ataxia, loss of vision, weakness, abnormal gait, seizures, tremors and aggressive behaviors.

 

In Dachshunds, a frame shift mutation of TPP1 gene causes an early-onset form of NCL. The disease in the Dachshunds is different from classical late-infantile onset NCL. Affected dogs exhibit progressive neurological signs similar to most of those characteristic of human CLN2.

Sample Type:

Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Sample collection kits are available and can be ordered at Canine Test Now.

Test Is Relevant to the Following Breeds:

Dachshund, Miniature Longhaired Dachshund, Miniature Smooth Dachshund, Miniature Wirehaired Dachshund, Standard Longhaired Dachshund, Standard Smooth Dachshund, Standard Wirehaired Dachshund

Results:

Animal Genetics offers DNA testing for Neuronal Ceroid Lipofuscinosis. The genetic test verifies the presence of the Neuronal Ceroid Lipofuscinosis mutation and presents results as one of the following:

NCL2/NCL2 Affected The dog carries two copies of the mutant TPP1 gene and is homozygous for Neuronal Ceroid Lipofuscinosis. The dog is affected by NCL2 and will always pass a copy of the mutation to its offspring.
NCL2/n Carrier Both the normal and mutant copies of the TPP1 gene detected. Dog is a carrier for the Neuronal Ceroid Lipofuscinosis mutation and can pass on a copy of the defective gene to its offspring.
n/n Clear Dog tested negative for the Hyperuricosuria mutation and will not pass on the defective gene to its offspring.