Cystic Renal Dysplasia and Hepatic Fibrosis is an inherited developmental disease that can be fatal in Norwich Terrier puppies. Affected puppies lack functional cilia during development, resulting in kidney malformation and scarring of the liver.

The Anttila lab in Finland has identified a mutation (INPP5E) associated with cystic renal dysplasia and hepatic fibrosis in norwich terriers. The mutation is believed to be a recessive trait, so dogs that have only one copy of the gene do not develop clinical signs.

Testing Prices:

Norwich Terrier renal dysplasia and hepatic fibrosis = $48.00 per dog

Norwich Terrier Litter Discount = $38.00 per puppy

Sample Type for Submission:

Acceptable samples include a cheek swab or 1-2 mL whole blood collected in an EDTA tube. If these sample types are unavailable, please reach out to us at [email protected] for more information. Alternative sample types may result in an additional charge.

Explanation of Results:

Two copies of each gene are inherited, one from each parent. Possible results include:

Negative

Dogs have two copies of the normal gene, which is not associated with renal dysplasia and hepatic fibrosis. They cannot transmit this mutation to their offspring.

Positive Heterozygous

Dogs have one copy of the normal gene and one copy of the mutated gene. Dogs will not show clinical signs as this is a recessive disorder. However, dogs may be able to transmit a mutation copy of the gene to their offspring.

Positive Homozygous

Dogs have two copies of the mutated gene, which is associated with renal dysplasia and hepatic fibrosis. They will transmit one copy of the mutation to their offspring.

Other factors could contribute to this condition in dogs, and a negative result does not rule out the presence of a different mutation that could cause a similar genetic disorder or trait.

Breeding Recommendations:

Breeding decisions should be made carefully and in discussion with your veterinarian. We cannot give specific breeding recommendations regarding your dog, but we advise to consider these genetic results as well as the overall health of the line. The goal is to reduce the prevalence of these disease-associated mutations while maintaining high quality biological variety within the population.