Golden Retriever HCM

Hypertrophic cardiomyopathy (HCM) is characterized by abnormal thickening of the left ventricle, the heart chamber responsible for pumping blood to the body. HCM is a genetic cardiac disorder commonly affecting the functional unit of contractility for cardiac muscle, known as the cardiac sarcomere. The disease frequently affects cats and very rarely is it observed in dogs. However, lethal HCM has been documented in a family of Golden Retrievers. Our laboratory has now identified the genetic variant linked to this rare canine disease.

Testing Prices:

TNNI3 mutation = $60.00 per dog

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 cvm-cardiacgenetics@ncsu.edu 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 that have two copies of the normal, unmutated, gene. Dogs with a Negative result will not be affected by the disease and have a 0% chance of passing the disease-linked gene to its offspring.

Positive Heterozygous

Dogs who are Positive Heterozygous for the HCM mutation have one copy of the mutated gene variant and one copy of the normal gene. Dogs that are Positive Heterozygous for the test will not develop HCM, however, have a 50% chance of passing the disease-linked gene to its offspring.

Positive Homozygous

Dogs who are Positive Homozygous for the HCM mutation have two copies of the mutated gene variant. Positive Homozygous dogs are suspected to be afflicted by the disease and should be echocardiographically screened.