Calreticulin Exon 9 Mutation, MPL Mutation analysis and JAK2 Exons12-15 … see more Calreticulin Exon 9 Mutation, MPL Mutation analysis and JAK2 Exons12-15 Mutation Analysis  see less
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000575367.1
CAP
CANCERHEMATOLOGYMUSCULOSKELETAL ... View more
Registered in GTR: 2020-03-03
Last annual review date for the lab: 2022-12-28 Past due LinkOut
At a Glance
Diagnosis
Thrombocythemia 1; Acquired polycythemia vera; Essential thrombocythemia more...
Genes (3): Help
CALR (19p13.13); JAK2 (9p24.1); MPL (1p34.2)
Molecular Genetics - Targeted variant analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); PCR
Myeloproliferative neoplasms, essential thrombocythemia, myelofibrosis
Not provided
Not provided
Ordering Information
Test short name: Help
CALR_MPL_JAK2_expanded
Specimen Source: Help
  • Bone marrow
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
Test Order Code: Help
CALR_MPL_JAK2_expanded
View other test codes
CPT codes: Help
**AMA CPT codes notice
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
CALR_MPL_JAK2_expanded
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 9
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
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
PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Myeloproliferative neoplasms, essential thrombocythemia, myelofibrosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
CALR: Analytic sensitivity of 1%. Analytic specificity of >99%. MPL and JAK2: 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
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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