Lethal lung disease / pulmonary surfactant metabolism dysfunction (LAMP3-related) - Airedale Terrier

What does this test examine?

This genetic test analyses the LAMP3 c.1159G>A variant in the Airedale Terrier. The condition is described as lethal lung disease, pulmonary surfactant metabolism dysfunction and fatal neonatal interstitial lung disease.

What does this condition mean?

Affected puppies can develop severe breathing difficulty, lethargy and poor suckling shortly after birth. Lung function is impaired because formation of surfactant-producing lamellar bodies is disrupted. The course can be very severe in the first days or weeks of life.

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.
• This test is especially useful for identifying healthy carriers in Airedale Terrier lines before two carriers are combined.

Inheritance and interpretation

The trait is inherited in an autosomal recessive manner. One copy means carrier status. Two copies form an important risk genotype for severe neonatal lung disease; reduced penetrance has been described and is therefore considered in interpretation.