Background
Primary polycythemia is classified as a syndrome with a chronic hematocrit elevation with low circulating erythropoietin (EPO) levels, consequently leading to an abnormal volume of red blood cells in the blood.
The frequency of Polycythemia in dogs is unknown and probably underestimated because it is often associated with nonspecific symptoms that can be attributed to various diseases.
Test specific information
-
Age
The genetic factor is continuously present, and will always be visible.
Throughput
Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.
Location of disease or trait
This disease affects the composition of the blood, consequently influencing the coagulation of blood.
Breed dependence
For this test samples from all breeds are accepted.
Sample type
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin. Please contact PharmaDNA if you wish to submit other material as listed.
Result
Somatic mutations will not be inherited to successive generations.
Inheritance
The analysed mutation in the canine JAK2 gene occurs as acquired somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. On the molecular level the mutation results in a constitutive activation of the Janus Kinase 2 (Tyrosine Kinase) and cytokine hypersensitivity which are responsible for the polycythemia. In humans, the identical mutation was identified in 90% of patients with polycythemia vera. Heterozygousity for this mutation is sufficient to produce the clinical picture of polycythemia, suggesting a dominant effect of the mutation.
Severity of Disease
-
