GTR Test Accession:
Help
GTR000575373.2
CAP
Last updated in GTR: 2023-02-17
View version history
GTR000575373.2, last updated: 2023-02-17
GTR000575373.1, last updated: 2022-12-28
Last annual review date for the lab: 2022-12-28
Past due
LinkOut
At a Glance
Methods (2):
Help
Molecular Genetics - Targeted variant analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); Quantitative PCR (qPCR)
Target population: Help
Myeloproliferative neoplasms, polycythemia vera, essential thrombocythemia, myelofibrosis
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Test short name:
Help
JAK2_quant_expanded
Specimen Source:
Help
- Bone marrow
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Health Care Provider
Test Order Code:
Help
JAK2_quant_expanded
View other test codes
View other test codes
CPT codes:
Help
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
JAK2_quant_expanded
Test development:
Help
Test developed by laboratory (no manufacturer test name)
Informed consent required:
Help
No
Pre-test genetic counseling required:
Help
No
Post-test genetic counseling required:
Help
No
Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
Help
Total conditions: 5
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: 2
Method Category
Help
Test method
Help
Instrument *
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Quantitative PCR (qPCR)
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Monitoring;
Diagnosis
Target population:
Help
Myeloproliferative neoplasms, polycythemia vera, essential thrombocythemia, myelofibrosis
Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
JAK2 V617F: Analytic sensitivity of 1%. Analytic specificity of >99%. JAK2 Exons 12-15: Analytic sensitivity >99% when variant is present at >5% VAF. Analytic specificity of >99%. Precision and reproducibility of >98%.
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
Help
Category:
FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Practice guidelines:
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.