Inflammatory pulmonary disease / IPD (AKNA-related) - Collie

What does this test analyse?

This genetic test analyses the AKNA c.2717_2720delACAG deletion in Collies. The condition is known as inflammatory pulmonary disease, recurrent inflammatory pulmonary disease and IPD. AKNA encodes a transcription factor involved in regulation of inflammatory and immune processes.

What does this condition mean?

Affected puppies can develop respiratory problems very early in life. The condition can involve recurrent bronchopneumonia, shallow or noisy breathing, coughing, nasal discharge, fever and general illness. The clinical picture may resemble primary ciliary dyskinesia, but this test focuses on the AKNA deletion shown in Collies with this pulmonary disease.

Inheritance and result

The condition is autosomal recessive. One copy makes a dog a carrier. Two copies of the deletion cause the tested risk genotype for this AKNA-related inflammatory pulmonary disease.

Result at a glance

• N/N - the AKNA deletion was not detected.
• N/del - carrier; one copy of the deletion is present.
• del/del - two copies of the deletion; this genotype causes the tested recessive lung disease.

Practical value of this test

This test helps Collie breeders identify carriers reliably and plan matings that avoid affected puppies. In lines where respiratory problems or IPD are relevant, the result gives direct information for breeding selection, risk management and clear communication with puppy buyers. In young dogs with matching signs, the result can also help clarify the genetic component of the condition earlier.