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Calreticulin Exon 9 Mutation and MPL Mutation analysis
Clinical Genetic Test
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offered by
PathGroup
View lab's test page
LinkOut
GTR Test Accession: Help GTR000575366.1
CAP
CANCERHEMATOLOGYINHERITED DISEASE ... View more
Last updated in GTR: 2020-03-03
View version history
Last annual review date for the lab: 2022-12-28 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (8): Help
Thrombocythemia 1; Acquired polycythemia vera; Myelodysplasia more...
Genes (2): Help
CALR (19p13.13); MPL (1p34.2)
Methods (2): Help
Molecular Genetics - Targeted variant analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); PCR
Target population: Help
Myeloproliferative neoplasms, essential thrombocythemia, myelofibrosis
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
PathGroup
View lab's website
View lab's test page
Test short name: Help
MPL
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
CALR_MPL
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
MPL
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:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 8
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
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:
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
Analytical Validity: Help
CALR: Analytic sensitivity of 1%. Analytic specificity of >99%. MPL: 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:
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

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.