Diffuse cystic renal dysplasia and hepatic fibrosis (INPP5E-related) - Norwich Terrier

What does this test analyse?

This genetic test analyses the INPP5E variant c.1572+5G>A for diffuse cystic renal dysplasia and hepatic fibrosis in Norwich Terrier dogs. The test determines whether the dog is clear, a carrier or genetically affected for this specific autosomal recessive variant.

What does this condition mean?

Diffuse cystic renal dysplasia and hepatic fibrosis is a severe inherited developmental disorder in Norwich Terriers. The condition may also be described as cystic renal dysplasia, congenital cystic kidney disease, hepatic fibrosis or a hepatorenal fibrocystic disorder.

Affected puppies are born with severely abnormal kidneys and hepatic fibrosis. The disorder can cause kidney failure, breathing problems and death shortly around birth. Genetic selection is therefore especially important before breeding combinations are made.

Practical value of this test

• Gives breeders clear information about clear, carrier and genetically affected dogs before breeding decisions are made.
• Helps avoid carrier-by-carrier matings and thereby prevent affected puppies.
• Supports breed-focused selection without automatically removing valuable carriers from a breeding programme.
• Makes the result useful for purchase decisions, mating plans, litter planning and communication with puppy buyers or veterinarians.

Inheritance and result

The trait is inherited as autosomal recessive. A dog with two normal alleles is clear. A dog with one copy is a carrier and can pass the variant on. A dog with two copies is genetically affected for this tested form of the condition.

Other conditions can cause similar clinical signs. This test therefore provides targeted genetic information about the variant for which the analysis was designed.