Neuronal ceroid lipofuscinosis 12 / NCL12 (ATP13A2-related) - Tibetan Terrier

What does this test examine?

This genetic test analyses the ATP13A2 variant c.1623del in the Tibetan Terrier. The condition is known as Neuronal ceroid lipofuscinosis 12 / NCL12, NCL12, neuronal ceroid lipofuscinosis and Batten disease.

The tested ATP13A2 deletion disrupts normal transcript processing and affects a protein important for lysosomal function in nerve cells.

What does this condition mean?

In the Tibetan Terrier, NCL12 can cause adult-onset behaviour changes, loss of vision, coordination problems and progressive neurological decline.

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 12 / NCL12.

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.