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COVID 19 UPDATE - our AUS and US offices & genetic testing laboratories remain open.We realise that things are changing quickly, but we remain operating as usual.We will keep up you updated even as other restrictions to different services are introduced.

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Neuronal Ceroid Lipofuscinosis NCL (Golden Retriever Type) - SINGLE ASSAY TEST

US$ 75.00 RRP

US$ 50.00 (USER PRICE)

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

CLN5 intracellular trafficking protein (CLN5) on Chromosome 22

Variant Detected:

Nucleotide Deletion c.934_935delAG p.E312Vfs*6

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Gilliam D, et al. Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. (2015) Mol Genet Metab 115(2-3);101-109.

Associated Breed(s):

Golden Retriever, Goldendoodle, Groodle, Labradoodle Retrodoodle ,