The Animal Health Diagnostic Center Molecular Diagnostic Laboratory, as of January 13, 2025, has resumed primary hyperparathyroidism testing for the Keeshond breed with a new real-time probe-based PCR assay that replaces the conventional PCR assay (test code PHPT) which was offered until July 2024. The new test is ‘Primary Hyperparathyroidism Insertion PCR’ and the test code is PHPTQ.

The new real-time assay is based on the genetic target identified by Dr. Richard Goldstein in his 2006-2008 research study that associated the ‘194 base pair insertion’ in chromosome 20 of the canine genome to the occurrence of the ‘late-onset primary hyperpuarathyroidism’ in the Keeshond breed. The new assay is designed to test for the presence or the absence of the 194 bp insertion in chromosome 20. A few representative sequences containing this insertion in chromosome 20 of the Keeshond breed have been deposited in the National Center for Biotechnology Information (NCBI) and their GenBank IDs are: PQ793767-PQ793769.

The PHPTQ test result will be reported as either ‘insertion present’ or ‘insertion absent’, with the former potentially linked to late onset primary hyperparathyroidism. The new assay has undergone extensive analytical validation, but clinical validation was not performed because clinically recognized Keeshond cases of primary hyperparathyroidism were not available. Therefore, clinical interpretation of the test result must be exercised with caution.

PHPTQ testing must be ordered by a registered veterinarian through the AHDC portal. AHDC will not accept paper forms and will not accept submissions from submitters who are not registered veterinarians.