Polycythemia vera
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000056468.3
- Last updated: 2023-02-08
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Acquired polycythemia vera
Offered by Molecular Genetics Laboratory
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Polycythemia vera (JAK2)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Drug Response, Monitoring, Mutation Confirmation, Prognostic
Click Indication tab for more information.
Requisition available on laboratory website
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://www.lhsc.on.ca/lab/molegen/jak2_myl.htm
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- TTargeted variant analysis
- RT-qPCR
- Agena Mass Array
Establish or confirm diagnosis
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.It has been reported1 that a single point mutation *JAK2: c.1849G>T predicting an amino acid substitution (JAK2: p.Val617Phe) that has been identified in the JAK2 gene in 71 (97%) of a panel of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. This mutation, which is typically acquired, is present in a variable proportion of granulocytes, and alters a highly conserved valine present in the negative regulatory JH2 domain, and is predicted to dysregulate kinase activity.
- Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. - PubMed ID: 15781101
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Custom Prenatal Testing
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.