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Polycythemia vera
Clinical Genetic Test
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offered by
Molecular Genetics Laboratory
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GTR Test Accession: Help GTR000056468.4
CANCERINHERITED DISEASECONNECTIVE TISSUE ... View more
Last updated in GTR: 2024-02-07
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Last annual review date for the lab: 2024-02-07 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Drug Response; Monitoring; ...
Conditions (1): Help
Acquired polycythemia vera
Genes (1): Help
JAK2 (9p24.1)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: RT-qPCR
Target population: Help
Human myeloproliferative disorders form a range of clonal haematological malignant …
Clinical validity: Help
It has been reported1 that a single point mutation *JAK2: …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics Laboratory
View lab's website
View lab's test page
Test short name: Help
JAK2
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
JAK2
Lab contact: Help
Gavin Giles, MSc, Administrator
gavin.giles@lhsc.on.ca
+1-519-685-8500 x36339
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Requisition available on laboratory website
Order URL
Test additional service: Help
Custom Prenatal Testing
Test development: Help
Manufactured (research use only; not FDA-reviewed)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
RT-qPCR
Agena Mass Array
Clinical Information
Test purpose: Help
Diagnosis; Drug Response; Monitoring; Mutation Confirmation; Prognostic
Clinical validity: Help
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 … View more
View citations (1)
  • Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Baxter EJ, et al. Lancet. 365(9464):1054-61. doi:10.1016/S0140-6736(05)71142-9. PMID: 15781101.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Human myeloproliferative disorders form a range of clonal haematological malignant diseases, the main members of which are polycythaemia vera, essential thrombocythaemia, and idiopathic myelofibrosis. The molecular pathogenesis of these disorders is unknown, but tyrosine kinases have been implicated in several related disorders1,2. JAK2 is a widely expressed cytoplasmic tyrosine kinase, … View more
View citations (1)
  • Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Baxter EJ, et al. Lancet. 365(9464):1054-61. doi:10.1016/S0140-6736(05)71142-9. PMID: 15781101.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
NA

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
JAK2 mutation, c.1849G>T, was detected using SNP allelotyping method by Agena MassARRAY (MALDI-TOF) platform. This technology uses single base extension reactions paired with mass spectrometry to quantitatively determine the identity of the amplified nucleotide based on the mass differential of the amplified nucleotides. Briefly, primers were designed using the MassArray … View more
View citations (1)
  • Package insert
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Methodology: JAK2 mutation, c.1849G>T, was detected using SNP allelotyping method by Agena MassARRAY (MALDI-TOF) platform. This technology uses single base extension reactions paired with mass spectrometry to quantitatively determine the identity of the amplified nucleotide based on the mass differential of the amplified nucleotides. Briefly, primers were designed using the … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
NA

Laboratory's policy on reporting novel variations Help
NA
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.