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H458

Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease. NCL in Tibetian Terriers can be caused by a mutation in the ATP13A2 gene.

Clinical features

NCL usually starts with blindness in dusk and disorientation. Affected dogs can appear nervous or anxious. They often lack motor coordination, which worsens overtime. Later on the affected dogs can experience problems with going up the stairs, getting up and jumping. At the final stages mild to severe seizures can be observed.

Additional information

References

Pubmed ID: 21362476,22022275

Omia ID: 1552

How does it work?

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2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

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