What is the JAK2 V617F mutation?
The Janus Kinase 2 gene, also known as JAK2 for short, is responsible for giving cells the instructions they need to produce the JAK2 protein. It is crucial for regulating the formation of blood cells in the bone marrow because this protein encourages cell growth and division. This test looks for changes in JAK2 that are linked to diseases of the bone marrow that make too many blood cells.
Myeloproliferative neoplasms, also known as MPNs, are diseases of the bone marrow that are brought on by mutations in the JAK2 gene.
The primary JAK2 test is called JAK2 V617F, which refers to a mutation at a particular location in the JAK2 gene. The JAK2 V617F mutation, which affects just one DNA base pair, is acquired as opposed to inherited. This particular type of mutation, known as a point mutation, occurs in JAK2 and causes the normally occurring amino acid valine (V) to be changed into phenylalanine (F). This amino acid substitution causes the JAK2 protein to become permanently “on,” which triggers the production of blood cells without control.
JAK2 V617F mutation Test
The JAK2 mutation test, in conjunction with other tests such as the CALR mutation test and the MPL mutation test, is used to assist in the diagnosis of bone marrow disorders that result in the production of an excessive number of blood cells. Myeloproliferative neoplasms (MPNs) are the name given to these types of disorders.
If a patient’s hemoglobin, hematocrit, red blood cell, and/or platelet counts are significantly elevated and the doctor suspects that the patient may have an MPN, particularly essential thrombocythemia (ET), polycythemia vera (PV), or primary myelofibrosis (PMF), the doctor usually orders a follow-up test to check for the presence of the JAK2 mutation. JAK2 V617F is the most common genetic test for MPNs caused by JAK2 mutations.
JAK2 V617F Mutation Test Positive
The JAK2 V617F mutation test is a diagnostic procedure used to pinpoint a particular JAK2 gene mutation.
If the test is positive for the JAK2 V617F mutation, it indicates that the individual’s DNA carries the mutation. However, this does not inherently indicate that the person possesses an MPN or another medical condition.
If the test is scheduled as part of a diagnostic workup for a suspected MPN, a positive result is likely to support the diagnosis of MPN; however, additional evaluation and testing are still required to verify the diagnosis and determine the right treatment.
JAK2 V617F Mutation Test Negative
If the JAK2 V617F mutation test comes out negative, it signifies that the specific mutation is not present in the individual’s DNA. However, it is essential to keep in mind that receiving a negative test result does not eliminate the prospect of having an MPN because there is still the possibility that other mutations or genetic abnormalities are present.
If the test is performed as part of a diagnostic workup for a suspected MPN and the result is negative, more tests are probably needed to figure out what is causing the symptoms. A qualified medical expert can advise patients on whether or not additional diagnostic testing is required.