Neuronal Ceroid-Lipofuscinosis 5 (Golden Retriever)

Application:
- Identification of heterozygous carrier animals.
- Differential diagnosis of diseases of the central nervous system.
This test investigates whether the dog carries the CLN5:c.934_935delA' mutation, which has been identified as the cause of neuronal ceroid lipofuscinosis 5 (NCL5) in the Golden Retriever.
NCL is a neurodegenerative disease of the central nervous system. Affected animals suffer from perceptual difficulties and increasing motor and cognitive impairments, and die prematurely. NCL5 is inherited in an autosomal recessive manner, the disease only occurs if two mutated genes are present.