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H721

Neuronal ceroid lipofuscinosis is a neurodegenerative disease characterised by accumulation of lipofuscin in the (brain) cells of the body.

10 working days

Specifications

Breeds

,

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Neuronal ceroid lipofuscinosis is a neurodegenerative disease characterised by accumulation of lipofuscin in the (brain) cells of the body.

This test detects a DNA variant that is highly associated with the disease.

Clinical features

Early visual loss leading to complete retinal blindness can be observed in puppies. In later stages of life a vegetative state can be reached followed by absence of brain activity.

Additional information

References

Pubmed ID: 16033706

Omia ID: 1482

How does it work?

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1. Select your product(s)

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2. Collect DNA sample

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

3. Results

We handle your DNA sample with care and provide you with the results.

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