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Dog DNA testing illustration

Neuronal Ceroid Lipofuscinosis 5 (NCL5) – Golden Retriever

Code: H380

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death.

General information

Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, occurring in the Golden Retriever, is the result of a recessive mutation to the CLN5 gene. A similar mutation also occurs in the Australian Cattle Dog and Border Collie.

Specifications

Breeds

Golden Retriever
Gene

CLN5
Chromosome

22
Mutation

c.934_935del
Organ

Nervous System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

NCL5

Clinical features

Onset of NCL in the Golden Retriever occurs at about 15 months of age. Symptoms include ataxia (loss of coordination), anxiety, pacing/circling, tremors, aggression, visual impairment and seizures.

References

Pubmed ID: 25934231

Year published: 2015

Omia ID: 1482

Omia variant ID:

Turnaround information

  • 15 working days