Neuronal ceroid lipofuscinosis 5 / NCL5 (CLN5-related) - Golden Retriever

What does this test examine?

This genetic test analyses the CLN5 variant c.934_935del in the Golden Retriever. The condition is known as Neuronal ceroid lipofuscinosis 5 / NCL5, NCL5, neuronal ceroid lipofuscinosis and Batten disease.

The tested CLN5 deletion causes a frameshift, altering the end of the CLN5 protein and disrupting lysosomal function in nerve cells.

What does this condition mean?

In the Golden Retriever, this NCL5 form causes progressive neurological decline with behaviour change, loss of coordination, vision problems and increasing limitation of normal activity.

NCL disorders are lysosomal storage diseases in which waste material accumulates in nerve cells. This progressively damages the nervous system and often vision. For breeders this is important because carriers can look healthy while two carriers together can produce genetically affected puppies.

Inheritance and result

The trait is autosomal recessive. A clear dog does not carry the variant, a carrier has one copy and a dog with two copies is genetically affected for this form of Neuronal ceroid lipofuscinosis 5 / NCL5.

Practical value of this test

• The result shows whether the dog is clear, carrier or genetically affected for the tested variant.
• Breeders can identify carriers and avoid matings that can produce affected puppies.
• The test helps clarify neurological NCL risk before breeding plans, sale or use as a breeding animal.
• Carriers can be used responsibly with clear partners, preserving genetic diversity without producing affected puppies.
• In breeds where the variant occurs, the result supports line management, family screening and targeted selection.