Leukodystrophy / LEP (TSEN54-related) - Standard Schnauzer

What does this test examine?

This genetic test analyses the TSEN54 c.371G>A variant in the Standard Schnauzer. The condition is described as leukodystrophy, LEP, leukoencephalopathy and TSEN54-related white matter disease.

What does this condition mean?

Affected puppies can develop neurological signs within the first weeks of life, including apathy, abnormal vocalisation, hypermetric ataxia, tremor, head tilt, circling and seizures.

Practical value of this test

• The result shows whether the dog is clear, a carrier or genetically affected for the tested variant.
• Breeders can identify carriers and avoid combinations that can produce affected puppies.
• In breeds where the variant occurs, DNA testing helps identify risk before clinical signs or breeding problems arise.
• The test is useful because carriers can appear healthy, while two carriers together can produce puppies with a severe neurological disorder.

Inheritance and interpretation

The trait is inherited in an autosomal recessive manner. One copy means carrier status. Two copies mean the genotype interpreted as affected or high risk for this disorder in the known breed context.