Primary Hyperparathyroidism DNA test at Canine Genetic Testing

Primary Hyperparathyroidism (PHPT)

£48.00 Incl. VAT

Find out if your Keeshond could develop Primary Hyperparathyroidism at CAGT.

CODE	PHPT-KS
Categories	Disease Tests, Endocrine
Turnaround	1-2 weeks
Breed(s)	Keeshond
Aliases	PHPT

Results from this test will be reported as detailed in the Registry Reporting list.

Overview

Primary hyperparathyroidism (PHPT) is an adult-onset disorder of calcium metabolism. Parathyroid hormone, produced by the parathyroid glands, is normally secreted in response to low blood calcium levels. In PHPT affected dogs the parathyroid glands produce too much parathyroid hormone, which leads to the depletion of calcium from bones and hypercalcemia in the blood.

The Keeshond is a breed that is affected by PHPT which is inherited as an autosomal disease in this breed.

Affected dogs may show significant polyuria (excessive urine production) and polydipsia (excessive thirst) along with bone pain, lethargy and depression, oral discomfort and a variety of gastrointestinal signs. However, signs can be subtle and are often ignored as normal aging changes. The disorder presents a significant welfare concern as it may lead to renal failure if parathyroidectomy (removal of one or more parathyroid glands) is not performed.

The DNA test assays for a variant that is very strongly associated with PHPT in Keeshonds. We have tested DNA from multiple Keeshonds that have a confirmed clinical diagnosis of PHPT, and they all carry the PHPT variant. We have also identified a small number of Keeshonds that carry the variant but that do not have a confirmed diagnosis of PHPT, which might be because they are too young to show signs of the disease, or because the signs are subtle and might not have been noticed by their owners. The variant is rare within the general Keeshond population and so can be considered a good indicator of PHPT risk.

A manuscript describing the PHPT variant is being prepared for publication.

Autosomal Dominant

PHPT in Keeshonds is inherited as an autosomal dominant disease.

This means that dogs that carry a single copy of the PHPT variant (heterozygotes) will almost certainly develop PHPT during their lives and they will also pass the variant on to about half of any offspring they have. During the course of our research we have not identified any dogs that carry two copies of the PHPT variant, which might be because the variant is rare or because embryos with two copies do not survive to term.

Carriers should not be bred from, even if they are mated to a dog that has also been tested and is clear of the PHPT disease causing mutation (i.e. carry no copies of the mutation). If a carrier is mated to a clear dog approximately half of the resulting puppies will also be carriers and will develop Primary hyperparathyroidism caused by the PHPT mutation during their lifetime.

Gene	TBC
Assay Type	Variant Specific
Inheritance	Autosomal Dominant
Severity	Moderate-Severe: The welfare of affected animals is significantly affected and life expectancy is usually reduced.