Test Catalog

Test Id : CSF3R

CSF3R Exon 14 and 17 Mutation Detection by Sanger Sequencing, Varies

Useful For
Suggests clinical disorders or settings where the test may be helpful

Evaluation and classification of chronic neutrophilia

 

Aids in the diagnosis of chronic neutrophilic leukemia (CNL)

 

Identification of mutations that may suggest the class of kinase inhibitor to which the neoplasm may be sensitive

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Mutation Detection in DNA Using Sanger Sequencing

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

CSF3R Exon 14/17 Mutation Detection

Aliases
Lists additional common names for a test, as an aid in searching

Chronic neutrophilic leukemia

Neutrophilia

Myeloproliferative neoplasm colony-stimulating factor 3

Exons 14 and 17

Specimen Type
Describes the specimen type validated for testing

Varies

Shipping Instructions

Specimen must arrive within 10 days (240 hours) of collection.

Necessary Information

The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date and time of collection

4. Specimen source

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
MP028 Specimen Type

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Submit only 1 of the following specimens:

 

Specimen Type: Blood

Container/Tube: EDTA (lavender top) or ACD (yellow top)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

3. Label specimen as blood.

Specimen Stability Information: Ambient (preferred)/Refrigerate

 

Specimen Type: Bone marrow aspirate

Container/Tube: EDTA (lavender top) or ACD (yellow top)

Specimen Volume: 2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send specimen in original tube.

3. Label specimen as bone marrow.

Specimen Stability Information: Ambient (preferred)/Refrigerate

 

Specimen Type: Extracted DNA from blood or bone marrow

Container/Tube: 1.5- to 2-mL tube

Specimen Volume: Entire specimen

Collection Instructions: Label specimen as extracted DNA from blood or bone marrow and provide indication of volume and concentration of the DNA.

Specimen Stability Information: Frozen (preferred)/Refrigerate/Ambient

 

Specimen Type: Paraffin-embedded tissue

Container/Tube: Paraffin block

Specimen Stability Information: Ambient 

 

Specimen Type: Paraffin-embedded bone marrow aspirate clot

Container/Tube: Paraffin block

Specimen Stability: Ambient

 

Specimen Type: Tissue

Slides: Unstained slides

Specimen Volume: 10 Slides

Specimen Stability Information: Ambient

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

1. Hematopathology Patient Information (T676) in Special Instructions

2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Blood, bone marrow: 1 mL

Extracted DNA from blood or bone marrow: 50 microliters (mcL) at 20 ng/mcL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis Reject
Other Bone marrow core biopsies Paraffin shavings Frozen tissues Moderately to severely clotted

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Varies Varies 10 days

Useful For
Suggests clinical disorders or settings where the test may be helpful

Evaluation and classification of chronic neutrophilia

 

Aids in the diagnosis of chronic neutrophilic leukemia (CNL)

 

Identification of mutations that may suggest the class of kinase inhibitor to which the neoplasm may be sensitive

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

CSF3R encodes the receptor for colony-stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. Somatic CSF3R mutations were recently described in 50% to 80% of chronic neutrophilic leukemia (CNL) patients. Their association with atypical chronic myelogenous leukemia (aCML) remains controversial. They have also been reported as somatic events in severe congenital neutropenia (SCN) patients.

 

There are 2 types of CSF3R mutations: extracellular domain/membrane proximal point mutations (most commonly p.T618I) and cytoplasmic tail truncation mutations. They demonstrated sensitivity to JAK kinase inhibitors and Src kinase inhibitors, respectively, in in vitro assays. In CNL, the most common mutation is p.T618I, although cytoplasmic truncation mutation can also occur. Somatic cytoplasmic truncation mutations have been reported in approximately 30% of SCN patients and 80% of SCN patients with leukemic transformation, who are often on granulocyte-colony stimulating factor (GCSF) therapy. However, their role in leukemic transformation is uncertain.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided

Interpretation
Provides information to assist in interpretation of the test results

The results will be given as positive or negative for CSF3R mutation and, if positive, the mutation will be described.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

The assay is performed using Sanger sequencing, which has a sensitivity of 20%. This means that 20% or more of the DNA in the sample must be mutated to be detected.

 

A positive result can be seen in chronic neutrophilic leukemia (CNL). However, it is not specific for this neoplasm and clinicopathologic correlation is necessary in all cases.

 

A negative result does not exclude the presence of a CNL, other myeloproliferative neoplasms, or other hematologic or nonhematologic neoplasms.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Maxson JE, Gotlib J, Pollyea DA, et al: Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med 2013;368:1781-1790

2. Pardanani A, Lasho TL, Laborde RR, et al: CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. Leukemia 2013;27:1870-1873

3. Tefferi A, Thiele J, Vannucchi AM, et al: An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms. Leukemia 2014;1:1-7

4. Vandenberghe P, Beel K: Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS. Pediatr Rep 2011;3(s2):e9

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

Exons 14 and 17 of CSF3R are amplified from the extracted DNA by PCR, followed by Sanger sequencing and capillary electrophoresis analysis. Review of the sequence data is performed using a combination of automated calls and manual inspection.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

5 to 8 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

DNA 3 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

81479-Unlisted molecular pathology procedure

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
CSF3R CSF3R Exon 14/17 Mutation Detection 92674-1
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
39427 CSF3R Sequencing Result No LOINC Needed
MP028 Specimen Type 31208-2
37924 Final Diagnosis 50398-7

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports